Canonical Allele Identifier: CA645372666
Community Standard Title: NM_000026.4(ADSL):c.[994G>C;1277G>A] (p.[Asp332His;Arg426His])
Gene: ADSL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.[40361619G>C;40364965G>A] , CM000684.2:g.[40361619G>C;40364965G>A] GRCh38
NC_000022.10:g.[40757623G>C;40760969G>A] , CM000684.1:g.[40757623G>C;40760969G>A] GRCh37
NC_000022.9:g.[39087569G>C;39090915G>A] NCBI36
NG_007993.1:g.[20120G>C;23466G>A]
NG_007993.2:g.[20120G>C;23466G>A]

Transcript Alleles

HGVS Amino-acid Change
NM_000026.4:c.[994G>C;1277G>A] MANE Select NP_000017.1:p.[Asp332His;Arg426His]
ENST00000623063.3:c.[994G>C;1277G>A] MANE Select ENSP00000485525.1:p.[Asp332His;Arg426His]
NM_000026.2:c.[994G>C;1277G>A] NP_000017.1:p.[Asp332His;Arg426His]
NM_000026.3:c.[994G>C;1277G>A] NP_000017.1:p.[Asp332His;Arg426His]
NM_001123378.1:c.[994G>C;1191+600G>A] NP_001116850.1:p.Asp332His
NM_001123378.2:c.[994G>C;1191+600G>A] NP_001116850.1:p.Asp332His
NM_001123378.3:c.[994G>C;1191+600G>A] NP_001116850.1:p.Asp332His
NM_001317923.1:c.[802G>C;1085G>A] NP_001304852.1:p.[Asp268His;Arg362His]
NM_001317923.2:c.[802G>C;1085G>A] NP_001304852.1:p.[Asp268His;Arg362His]
NM_001363840.1:c.[994G>C;1277G>A] NP_001350769.1:p.[Asp332His;Arg426His]
NM_001363840.2:c.[994G>C;1277G>A] NP_001350769.1:p.[Asp332His;Arg426His]
NM_001363840.3:c.[994G>C;1277G>A] NP_001350769.1:p.[Asp332His;Arg426His]
NR_134256.1:n.[1053G>C;1367G>A]
NR_134256.2:n.[1053G>C;1367G>A]
ENST00000216194.11:c.[1036G>C;1319G>A] ENSP00000216194.8:p.[Asp346His;Arg440His]
ENST00000342312.9:c.[994G>C;1191+600G>A] ENSP00000341429.6:p.Asp332His
ENST00000480775.3:c.[*357G>C;*671G>A] ENSP00000485462.2:n.[*357G>C;*671G>A]
ENST00000623287.4:c.[*419G>C;*702G>A] ENSP00000485437.1:n.[*419G>C;*702G>A]
ENST00000623632.4:c.[792+1127G>C;968G>A] ENSP00000485288.2:p.Arg323His
ENST00000625194.3:c.[581G>C;906G>A]
ENST00000625194.4:c.[994G>C;1319G>A] ENSP00000485289.2:p.[Asp332His;Arg440His]
ENST00000636433.1:n.[1016G>C;1299G>A]
ENST00000636714.1:c.[994G>C;1277G>A] ENSP00000490946.1:p.[Asp332His;Arg426His]
ENST00000637666.2:c.[994G>C;1191+600G>A] ENSP00000489696.2:p.Asp332His
ENST00000637669.1:c.[994G>C;1277G>A] ENSP00000489728.1:p.[Asp332His;Arg426His]
ENST00000639722.1:c.[*690G>C;*973G>A] ENSP00000492828.1:n.[*690G>C;*973G>A]
ENST00000674592.1:n.[1163G>C;2791G>A]
ENST00000675622.1:n.[4061G>C;4344G>A]
ENST00000679609.1:c.[*604G>C;*887G>A] ENSP00000506592.1:n.[*604G>C;*887G>A]
ENST00000679656.1:n.[1679G>C;1962G>A]
ENST00000679723.1:c.[949G>C;1232G>A] ENSP00000505155.1:p.[Asp317His;Arg411His]
ENST00000679845.1:n.[1302G>C;1585G>A]
ENST00000679904.1:n.[1390G>C;1673G>A]
ENST00000680378.1:c.[1081G>C;1364G>A] ENSP00000505556.1:p.[Asp361His;Arg455His]
ENST00000680444.1:c.[*357G>C;*640G>A] ENSP00000505298.1:n.[*357G>C;*640G>A]
ENST00000680978.1:c.[994G>C;1277G>A] ENSP00000505244.1:p.[Asp332His;Arg426His]
ENST00000681003.1:n.[426G>C;740G>A]
ENST00000681159.1:n.[1053G>C;2681G>A]
XM_011529976.1:c.[994G>C;1277G>A] XP_011528278.1:p.[Asp332His;Arg426His]
XM_011529977.1:c.[994G>C;1277G>A] XP_011528279.1:p.[Asp332His;Arg426His]
XM_011529977.3:c.[994G>C;1277G>A] XP_011528279.1:p.[Asp332His;Arg426His]
XM_011529978.1:c.[994G>C;1191+600G>A] XP_011528280.1:p.Asp332His
XM_011529979.1:c.[994G>C;1277G>A] XP_011528281.1:p.[Asp332His;Arg426His]
XM_011529980.1:c.[994G>C;1191+600G>A] XP_011528282.1:p.Asp332His
XM_011529980.3:c.[994G>C;1191+600G>A] XP_011528282.1:p.Asp332His
XM_011529981.1:c.[529G>C;812G>A] XP_011528283.1:p.[Asp177His;Arg271His]
XM_011529982.1:c.[163G>C;446G>A] XP_011528284.1:p.[Asp55His;Arg149His]
XM_017028636.1:c.[949G>C;1232G>A] XP_016884125.1:p.[Asp317His;Arg411His]
XM_017028637.1:c.[949G>C;1232G>A] XP_016884126.1:p.[Asp317His;Arg411His]
XM_017028638.1:c.[529G>C;812G>A] XP_016884127.1:p.[Asp177His;Arg271His]
XM_017028639.2:c.[529G>C;812G>A] XP_016884128.1:p.[Asp177His;Arg271His]
XM_017028640.1:c.[163G>C;446G>A] XP_016884129.1:p.[Asp55His;Arg149His]
XM_024452166.1:c.[949G>C;1146+600G>A] XP_024307934.1:p.Asp317His
XR_001755176.2:n.[1236G>C;1519G>A]
XR_002958670.1:n.[990G>C;1304G>A]
XR_937824.1:n.[1053G>C;1367G>A]
XR_937825.1:n.[1053G>C;1281+600G>A]
XR_937825.3:n.[1051G>C;1279+600G>A]