Canonical Allele Identifier: CA10247961

Gene: ADSL

Linked Data

• dbSNP Id: rs779859012
• ExAC: 22:40760886 T / C
• gnomAD v2: 22-40760886-T-C
• gnomAD v3: 22-40364882-T-C
• gnomAD v4: 22-40364882-T-C
• MyVariant Identifiers: chr22:g.40760886T>C (hg19) ; chr22:g.40364882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40364882T>C , CM000684.2:g.40364882T>C	GRCh38
NC_000022.10:g.40760886T>C , CM000684.1:g.40760886T>C	GRCh37
NC_000022.9:g.39090832T>C	NCBI36
NG_007993.1:g.23383T>C
NG_007993.2:g.23383T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480775.3:c.*588T>C	ENSP00000485462.2:n.*588T>C
ENST00000623287.4:c.*619T>C	ENSP00000485437.1:n.*619T>C
ENST00000623632.4:c.885T>C	ENSP00000485288.2:p.Asp295=
ENST00000625194.4:c.1236T>C	ENSP00000485289.2:p.Asp412=
ENST00000636433.1:n.1216T>C
ENST00000636714.1:c.1194T>C	ENSP00000490946.1:p.Asp398=
ENST00000637666.2:c.1191+517T>C	ENSP00000489696.2:n.1191+517T>C
ENST00000637669.1:c.1194T>C	ENSP00000489728.1:p.Asp398=
ENST00000639722.1:c.*890T>C	ENSP00000492828.1:n.*890T>C
ENST00000674592.1:n.2708T>C
ENST00000675622.1:n.4261T>C
ENST00000679609.1:c.*804T>C	ENSP00000506592.1:n.*804T>C
ENST00000679656.1:n.1879T>C
ENST00000679723.1:c.1149T>C	ENSP00000505155.1:p.Asp383=
ENST00000679845.1:n.1502T>C
ENST00000679904.1:n.1590T>C
ENST00000680378.1:c.1281T>C	ENSP00000505556.1:p.Asp427=
ENST00000680444.1:c.*557T>C	ENSP00000505298.1:n.*557T>C
ENST00000680978.1:c.1194T>C	ENSP00000505244.1:p.Asp398=
ENST00000681003.1:n.657T>C
ENST00000681159.1:n.2598T>C
ENST00000216194.11:c.1236T>C	ENSP00000216194.8:p.Asp412=
ENST00000342312.9:c.1191+517T>C	ENSP00000341429.6:n.1191+517T>C
ENST00000623063.3:c.1194T>C MANE Select	ENSP00000485525.1:p.Asp398=
ENST00000623387.1:n.325T>C
ENST00000625194.3:c.823T>C
NM_000026.2:c.1194T>C	NP_000017.1:p.Asp398=
NM_001123378.1:c.1191+517T>C	NP_001116850.1:n.1191+517T>C
XM_011529976.1:c.1194T>C	XP_011528278.1:p.Asp398=
XM_011529977.1:c.1194T>C	XP_011528279.1:p.Asp398=
XM_011529978.1:c.1191+517T>C	XP_011528280.1:n.1191+517T>C
XM_011529979.1:c.1194T>C	XP_011528281.1:p.Asp398=
XM_011529980.1:c.1191+517T>C	XP_011528282.1:n.1191+517T>C
XM_011529981.1:c.729T>C	XP_011528283.1:p.Asp243=
XM_011529982.1:c.363T>C	XP_011528284.1:p.Asp121=
XR_937824.1:n.1284T>C
XR_937825.1:n.1281+517T>C
NM_000026.3:c.1194T>C	NP_000017.1:p.Asp398=
NM_001123378.2:c.1191+517T>C	NP_001116850.1:n.1191+517T>C
NM_001317923.1:c.1002T>C	NP_001304852.1:p.Asp334=
NM_001363840.1:c.1194T>C	NP_001350769.1:p.Asp398=
NR_134256.1:n.1284T>C
XM_011529977.3:c.1194T>C	XP_011528279.1:p.Asp398=
XM_011529980.3:c.1191+517T>C	XP_011528282.1:n.1191+517T>C
XM_017028636.1:c.1149T>C	XP_016884125.1:p.Asp383=
XM_017028637.1:c.1149T>C	XP_016884126.1:p.Asp383=
XM_017028638.1:c.729T>C	XP_016884127.1:p.Asp243=
XM_017028639.2:c.729T>C	XP_016884128.1:p.Asp243=
XM_017028640.1:c.363T>C	XP_016884129.1:p.Asp121=
XM_024452166.1:c.1146+517T>C	XP_024307934.1:n.1146+517T>C
XR_001755176.2:n.1436T>C
XR_002958670.1:n.1221T>C
XR_937825.3:n.1279+517T>C
NM_000026.4:c.1194T>C MANE Select	NP_000017.1:p.Asp398=
NM_001363840.2:c.1194T>C	NP_001350769.1:p.Asp398=
NM_001123378.3:c.1191+517T>C	NP_001116850.1:n.1191+517T>C
NM_001317923.2:c.1002T>C	NP_001304852.1:p.Asp334=
NM_001363840.3:c.1194T>C	NP_001350769.1:p.Asp398=
NR_134256.2:n.1284T>C