Canonical Allele Identifier: CA411648217

Gene: ADSL

Linked Data

• gnomAD v4: 22-40364977-A-T
• MyVariant Identifiers: chr22:g.40760981A>T (hg19) ; chr22:g.40364977A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364977A>T , CM000684.2:g.40364977A>T	GRCh38
NC_000022.10:g.40760981A>T , CM000684.1:g.40760981A>T	GRCh37
NC_000022.9:g.39090927A>T	NCBI36
NG_007993.1:g.23478A>T
NG_007993.2:g.23478A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480775.3:c.*683A>T	ENSP00000485462.2:n.*683A>T
ENST00000623287.4:c.*714A>T	ENSP00000485437.1:n.*714A>T
ENST00000623632.4:c.980A>T	ENSP00000485288.2:p.Asp327Val
ENST00000625194.4:c.1331A>T	ENSP00000485289.2:p.Asp444Val
ENST00000636433.1:n.1311A>T
ENST00000636714.1:c.1289A>T	ENSP00000490946.1:p.Asp430Val
ENST00000637666.2:c.1191+612A>T	ENSP00000489696.2:n.1191+612A>T
ENST00000637669.1:c.1289A>T	ENSP00000489728.1:p.Asp430Val
ENST00000639722.1:c.*985A>T	ENSP00000492828.1:n.*985A>T
ENST00000674592.1:n.2803A>T
ENST00000675622.1:n.4356A>T
ENST00000679609.1:c.*899A>T	ENSP00000506592.1:n.*899A>T
ENST00000679656.1:n.1974A>T
ENST00000679723.1:c.1244A>T	ENSP00000505155.1:p.Asp415Val
ENST00000679845.1:n.1597A>T
ENST00000679904.1:n.1685A>T
ENST00000680378.1:c.1376A>T	ENSP00000505556.1:p.Asp459Val
ENST00000680444.1:c.*652A>T	ENSP00000505298.1:n.*652A>T
ENST00000680978.1:c.1289A>T	ENSP00000505244.1:p.Asp430Val
ENST00000681003.1:n.752A>T
ENST00000681159.1:n.2693A>T
ENST00000216194.11:c.1331A>T	ENSP00000216194.8:p.Asp444Val
ENST00000342312.9:c.1191+612A>T	ENSP00000341429.6:n.1191+612A>T
ENST00000423176.6:c.16A>T
ENST00000623063.3:c.1289A>T MANE Select	ENSP00000485525.1:p.Asp430Val
ENST00000623387.1:n.420A>T
ENST00000623869.3:c.20A>T	ENSP00000485211.1:p.Asp7Val
ENST00000624027.1:c.16A>T
ENST00000625194.3:c.918A>T
NM_000026.2:c.1289A>T	NP_000017.1:p.Asp430Val
NM_001123378.1:c.1191+612A>T	NP_001116850.1:n.1191+612A>T
XM_011529976.1:c.1289A>T	XP_011528278.1:p.Asp430Val
XM_011529977.1:c.1289A>T	XP_011528279.1:p.Asp430Val
XM_011529978.1:c.1191+612A>T	XP_011528280.1:n.1191+612A>T
XM_011529979.1:c.1289A>T	XP_011528281.1:p.Asp430Val
XM_011529980.1:c.1191+612A>T	XP_011528282.1:n.1191+612A>T
XM_011529981.1:c.824A>T	XP_011528283.1:p.Asp275Val
XM_011529982.1:c.458A>T	XP_011528284.1:p.Asp153Val
XR_937824.1:n.1379A>T
XR_937825.1:n.1281+612A>T
NM_000026.3:c.1289A>T	NP_000017.1:p.Asp430Val
NM_001123378.2:c.1191+612A>T	NP_001116850.1:n.1191+612A>T
NM_001317923.1:c.1097A>T	NP_001304852.1:p.Asp366Val
NM_001363840.1:c.1289A>T	NP_001350769.1:p.Asp430Val
NR_134256.1:n.1379A>T
XM_011529977.3:c.1289A>T	XP_011528279.1:p.Asp430Val
XM_011529980.3:c.1191+612A>T	XP_011528282.1:n.1191+612A>T
XM_017028636.1:c.1244A>T	XP_016884125.1:p.Asp415Val
XM_017028637.1:c.1244A>T	XP_016884126.1:p.Asp415Val
XM_017028638.1:c.824A>T	XP_016884127.1:p.Asp275Val
XM_017028639.2:c.824A>T	XP_016884128.1:p.Asp275Val
XM_017028640.1:c.458A>T	XP_016884129.1:p.Asp153Val
XM_024452166.1:c.1146+612A>T	XP_024307934.1:n.1146+612A>T
XR_001755176.2:n.1531A>T
XR_002958670.1:n.1316A>T
XR_937825.3:n.1279+612A>T
NM_000026.4:c.1289A>T MANE Select	NP_000017.1:p.Asp430Val
NM_001363840.2:c.1289A>T	NP_001350769.1:p.Asp430Val
NM_001123378.3:c.1191+612A>T	NP_001116850.1:n.1191+612A>T
NM_001317923.2:c.1097A>T	NP_001304852.1:p.Asp366Val
NM_001363840.3:c.1289A>T	NP_001350769.1:p.Asp430Val
NR_134256.2:n.1379A>T