Canonical Allele Identifier: CA411647437

Gene: ADSL

Linked Data

• MyVariant Identifiers: chr22:g.40760885A>T (hg19) ; chr22:g.40364881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364881A>T , CM000684.2:g.40364881A>T	GRCh38
NC_000022.10:g.40760885A>T , CM000684.1:g.40760885A>T	GRCh37
NC_000022.9:g.39090831A>T	NCBI36
NG_007993.1:g.23382A>T
NG_007993.2:g.23382A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*587A>T	ENSP00000485462.2:n.*587A>T
ENST00000623287.4:c.*618A>T	ENSP00000485437.1:n.*618A>T
ENST00000623632.4:c.884A>T	ENSP00000485288.2:p.Asp295Val
ENST00000625194.4:c.1235A>T	ENSP00000485289.2:p.Asp412Val
ENST00000636433.1:n.1215A>T
ENST00000636714.1:c.1193A>T	ENSP00000490946.1:p.Asp398Val
ENST00000637666.2:c.1191+516A>T	ENSP00000489696.2:n.1191+516A>T
ENST00000637669.1:c.1193A>T	ENSP00000489728.1:p.Asp398Val
ENST00000639722.1:c.*889A>T	ENSP00000492828.1:n.*889A>T
ENST00000674592.1:n.2707A>T
ENST00000675622.1:n.4260A>T
ENST00000679609.1:c.*803A>T	ENSP00000506592.1:n.*803A>T
ENST00000679656.1:n.1878A>T
ENST00000679723.1:c.1148A>T	ENSP00000505155.1:p.Asp383Val
ENST00000679845.1:n.1501A>T
ENST00000679904.1:n.1589A>T
ENST00000680378.1:c.1280A>T	ENSP00000505556.1:p.Asp427Val
ENST00000680444.1:c.*556A>T	ENSP00000505298.1:n.*556A>T
ENST00000680978.1:c.1193A>T	ENSP00000505244.1:p.Asp398Val
ENST00000681003.1:n.656A>T
ENST00000681159.1:n.2597A>T
ENST00000216194.11:c.1235A>T	ENSP00000216194.8:p.Asp412Val
ENST00000342312.9:c.1191+516A>T	ENSP00000341429.6:n.1191+516A>T
ENST00000623063.3:c.1193A>T MANE Select	ENSP00000485525.1:p.Asp398Val
ENST00000623387.1:n.324A>T
ENST00000625194.3:c.822A>T
NM_000026.2:c.1193A>T	NP_000017.1:p.Asp398Val
NM_001123378.1:c.1191+516A>T	NP_001116850.1:n.1191+516A>T
XM_011529976.1:c.1193A>T	XP_011528278.1:p.Asp398Val
XM_011529977.1:c.1193A>T	XP_011528279.1:p.Asp398Val
XM_011529978.1:c.1191+516A>T	XP_011528280.1:n.1191+516A>T
XM_011529979.1:c.1193A>T	XP_011528281.1:p.Asp398Val
XM_011529980.1:c.1191+516A>T	XP_011528282.1:n.1191+516A>T
XM_011529981.1:c.728A>T	XP_011528283.1:p.Asp243Val
XM_011529982.1:c.362A>T	XP_011528284.1:p.Asp121Val
XR_937824.1:n.1283A>T
XR_937825.1:n.1281+516A>T
NM_000026.3:c.1193A>T	NP_000017.1:p.Asp398Val
NM_001123378.2:c.1191+516A>T	NP_001116850.1:n.1191+516A>T
NM_001317923.1:c.1001A>T	NP_001304852.1:p.Asp334Val
NM_001363840.1:c.1193A>T	NP_001350769.1:p.Asp398Val
NR_134256.1:n.1283A>T
XM_011529977.3:c.1193A>T	XP_011528279.1:p.Asp398Val
XM_011529980.3:c.1191+516A>T	XP_011528282.1:n.1191+516A>T
XM_017028636.1:c.1148A>T	XP_016884125.1:p.Asp383Val
XM_017028637.1:c.1148A>T	XP_016884126.1:p.Asp383Val
XM_017028638.1:c.728A>T	XP_016884127.1:p.Asp243Val
XM_017028639.2:c.728A>T	XP_016884128.1:p.Asp243Val
XM_017028640.1:c.362A>T	XP_016884129.1:p.Asp121Val
XM_024452166.1:c.1146+516A>T	XP_024307934.1:n.1146+516A>T
XR_001755176.2:n.1435A>T
XR_002958670.1:n.1220A>T
XR_937825.3:n.1279+516A>T
NM_000026.4:c.1193A>T MANE Select	NP_000017.1:p.Asp398Val
NM_001363840.2:c.1193A>T	NP_001350769.1:p.Asp398Val
NM_001123378.3:c.1191+516A>T	NP_001116850.1:n.1191+516A>T
NM_001317923.2:c.1001A>T	NP_001304852.1:p.Asp334Val
NM_001363840.3:c.1193A>T	NP_001350769.1:p.Asp398Val
NR_134256.2:n.1283A>T