Canonical Allele Identifier: CA411647871

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760937G>T (hg19) ; chr22:g.40364933G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364933G>T , CM000684.2:g.40364933G>T	GRCh38
NC_000022.10:g.40760937G>T , CM000684.1:g.40760937G>T	GRCh37
NC_000022.9:g.39090883G>T	NCBI36
NG_007993.1:g.23434G>T
NG_007993.2:g.23434G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*639G>T	ENSP00000485462.2:n.*639G>T
ENST00000623287.4:c.*670G>T	ENSP00000485437.1:n.*670G>T
ENST00000623632.4:c.936G>T	ENSP00000485288.2:p.Lys312Asn
ENST00000625194.4:c.1287G>T	ENSP00000485289.2:p.Lys429Asn
ENST00000636433.1:n.1267G>T
ENST00000636714.1:c.1245G>T	ENSP00000490946.1:p.Lys415Asn
ENST00000637666.2:c.1191+568G>T	ENSP00000489696.2:n.1191+568G>T
ENST00000637669.1:c.1245G>T	ENSP00000489728.1:p.Lys415Asn
ENST00000639722.1:c.*941G>T	ENSP00000492828.1:n.*941G>T
ENST00000674592.1:n.2759G>T
ENST00000675622.1:n.4312G>T
ENST00000679609.1:c.*855G>T	ENSP00000506592.1:n.*855G>T
ENST00000679656.1:n.1930G>T
ENST00000679723.1:c.1200G>T	ENSP00000505155.1:p.Lys400Asn
ENST00000679845.1:n.1553G>T
ENST00000679904.1:n.1641G>T
ENST00000680378.1:c.1332G>T	ENSP00000505556.1:p.Lys444Asn
ENST00000680444.1:c.*608G>T	ENSP00000505298.1:n.*608G>T
ENST00000680978.1:c.1245G>T	ENSP00000505244.1:p.Lys415Asn
ENST00000681003.1:n.708G>T
ENST00000681159.1:n.2649G>T
ENST00000216194.11:c.1287G>T	ENSP00000216194.8:p.Lys429Asn
ENST00000342312.9:c.1191+568G>T	ENSP00000341429.6:n.1191+568G>T
ENST00000623063.3:c.1245G>T MANE Select	ENSP00000485525.1:p.Lys415Asn
ENST00000623387.1:n.376G>T
ENST00000625194.3:c.874G>T
NM_000026.2:c.1245G>T	NP_000017.1:p.Lys415Asn
NM_001123378.1:c.1191+568G>T	NP_001116850.1:n.1191+568G>T
XM_011529976.1:c.1245G>T	XP_011528278.1:p.Lys415Asn
XM_011529977.1:c.1245G>T	XP_011528279.1:p.Lys415Asn
XM_011529978.1:c.1191+568G>T	XP_011528280.1:n.1191+568G>T
XM_011529979.1:c.1245G>T	XP_011528281.1:p.Lys415Asn
XM_011529980.1:c.1191+568G>T	XP_011528282.1:n.1191+568G>T
XM_011529981.1:c.780G>T	XP_011528283.1:p.Lys260Asn
XM_011529982.1:c.414G>T	XP_011528284.1:p.Lys138Asn
XR_937824.1:n.1335G>T
XR_937825.1:n.1281+568G>T
NM_000026.3:c.1245G>T	NP_000017.1:p.Lys415Asn
NM_001123378.2:c.1191+568G>T	NP_001116850.1:n.1191+568G>T
NM_001317923.1:c.1053G>T	NP_001304852.1:p.Lys351Asn
NM_001363840.1:c.1245G>T	NP_001350769.1:p.Lys415Asn
NR_134256.1:n.1335G>T
XM_011529977.3:c.1245G>T	XP_011528279.1:p.Lys415Asn
XM_011529980.3:c.1191+568G>T	XP_011528282.1:n.1191+568G>T
XM_017028636.1:c.1200G>T	XP_016884125.1:p.Lys400Asn
XM_017028637.1:c.1200G>T	XP_016884126.1:p.Lys400Asn
XM_017028638.1:c.780G>T	XP_016884127.1:p.Lys260Asn
XM_017028639.2:c.780G>T	XP_016884128.1:p.Lys260Asn
XM_017028640.1:c.414G>T	XP_016884129.1:p.Lys138Asn
XM_024452166.1:c.1146+568G>T	XP_024307934.1:n.1146+568G>T
XR_001755176.2:n.1487G>T
XR_002958670.1:n.1272G>T
XR_937825.3:n.1279+568G>T
NM_000026.4:c.1245G>T MANE Select	NP_000017.1:p.Lys415Asn
NM_001363840.2:c.1245G>T	NP_001350769.1:p.Lys415Asn
NM_001123378.3:c.1191+568G>T	NP_001116850.1:n.1191+568G>T
NM_001317923.2:c.1053G>T	NP_001304852.1:p.Lys351Asn
NM_001363840.3:c.1245G>T	NP_001350769.1:p.Lys415Asn
NR_134256.2:n.1335G>T