Canonical Allele Identifier: CA239716

Gene: ADSL

Linked Data

• ClinVar Variation Id: 193965
• ClinVar RCV Id: RCV000174208
• dbSNP Id: rs761279806
• ExAC: 22:40761063 A / G
• gnomAD v2: 22-40761063-A-G
• gnomAD v3: 22-40365059-A-G
• gnomAD v4: 22-40365059-A-G
• MyVariant Identifiers: chr22:g.40761063A>G (hg19) ; chr22:g.40365059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.40365059A>G , CM000684.2:g.40365059A>G	GRCh38
NC_000022.10:g.40761063A>G , CM000684.1:g.40761063A>G	GRCh37
NC_000022.9:g.39091009A>G	NCBI36
NG_007993.1:g.23560A>G
NG_007993.2:g.23560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480775.3:c.*762+3A>G	ENSP00000485462.2:n.*762+3A>G
ENST00000623287.4:c.*793+3A>G	ENSP00000485437.1:n.*793+3A>G
ENST00000623632.4:c.1059+3A>G	ENSP00000485288.2:n.1059+3A>G
ENST00000625194.4:c.1410+3A>G	ENSP00000485289.2:n.1410+3A>G
ENST00000636433.1:n.1390+3A>G
ENST00000636714.1:c.1368+3A>G	ENSP00000490946.1:n.1368+3A>G
ENST00000637666.2:c.1191+694A>G	ENSP00000489696.2:n.1191+694A>G
ENST00000637669.1:c.1368+3A>G	ENSP00000489728.1:n.1368+3A>G
ENST00000639722.1:c.*1064+3A>G	ENSP00000492828.1:n.*1064+3A>G
ENST00000674592.1:n.2882+3A>G
ENST00000675622.1:n.4435+3A>G
ENST00000679609.1:c.*978+3A>G	ENSP00000506592.1:n.*978+3A>G
ENST00000679656.1:n.2053+3A>G
ENST00000679723.1:c.1323+3A>G	ENSP00000505155.1:n.1323+3A>G
ENST00000679845.1:n.1676+3A>G
ENST00000679904.1:n.1764+3A>G
ENST00000680378.1:c.1455+3A>G	ENSP00000505556.1:n.1455+3A>G
ENST00000680444.1:c.*731+3A>G	ENSP00000505298.1:n.*731+3A>G
ENST00000680978.1:c.1368+3A>G	ENSP00000505244.1:n.1368+3A>G
ENST00000681003.1:n.831+3A>G
ENST00000681159.1:n.2772+3A>G
ENST00000216194.11:c.1410+3A>G	ENSP00000216194.8:n.1410+3A>G
ENST00000342312.9:c.1191+694A>G	ENSP00000341429.6:n.1191+694A>G
ENST00000423176.6:c.95+3A>G
ENST00000498234.2:c.26+3A>G
ENST00000623063.3:c.1368+3A>G MANE Select	ENSP00000485525.1:n.1368+3A>G
ENST00000623387.1:n.499+3A>G
ENST00000623869.3:c.99+3A>G	ENSP00000485211.1:n.99+3A>G
ENST00000624027.1:c.95+3A>G
ENST00000625194.3:c.997+3A>G
NM_000026.2:c.1368+3A>G	NP_000017.1:n.1368+3A>G
NM_001123378.1:c.1191+694A>G	NP_001116850.1:n.1191+694A>G
XM_011529976.1:c.1368+3A>G	XP_011528278.1:n.1368+3A>G
XM_011529977.1:c.1368+3A>G	XP_011528279.1:n.1368+3A>G
XM_011529978.1:c.1191+694A>G	XP_011528280.1:n.1191+694A>G
XM_011529979.1:c.1368+3A>G	XP_011528281.1:n.1368+3A>G
XM_011529980.1:c.1191+694A>G	XP_011528282.1:n.1191+694A>G
XM_011529981.1:c.903+3A>G	XP_011528283.1:n.903+3A>G
XM_011529982.1:c.537+3A>G	XP_011528284.1:n.537+3A>G
XR_937824.1:n.1458+3A>G
XR_937825.1:n.1281+694A>G
NM_000026.3:c.1368+3A>G	NP_000017.1:n.1368+3A>G
NM_001123378.2:c.1191+694A>G	NP_001116850.1:n.1191+694A>G
NM_001317923.1:c.1176+3A>G	NP_001304852.1:n.1176+3A>G
NM_001363840.1:c.1368+3A>G	NP_001350769.1:n.1368+3A>G
NR_134256.1:n.1458+3A>G
XM_011529977.3:c.1368+3A>G	XP_011528279.1:n.1368+3A>G
XM_011529980.3:c.1191+694A>G	XP_011528282.1:n.1191+694A>G
XM_017028636.1:c.1323+3A>G	XP_016884125.1:n.1323+3A>G
XM_017028637.1:c.1323+3A>G	XP_016884126.1:n.1323+3A>G
XM_017028638.1:c.903+3A>G	XP_016884127.1:n.903+3A>G
XM_017028639.2:c.903+3A>G	XP_016884128.1:n.903+3A>G
XM_017028640.1:c.537+3A>G	XP_016884129.1:n.537+3A>G
XM_024452166.1:c.1146+694A>G	XP_024307934.1:n.1146+694A>G
XR_001755176.2:n.1610+3A>G
XR_002958670.1:n.1395+3A>G
XR_937825.3:n.1279+694A>G
NM_000026.4:c.1368+3A>G MANE Select	NP_000017.1:n.1368+3A>G
NM_001363840.2:c.1368+3A>G	NP_001350769.1:n.1368+3A>G
NM_001123378.3:c.1191+694A>G	NP_001116850.1:n.1191+694A>G
NM_001317923.2:c.1176+3A>G	NP_001304852.1:n.1176+3A>G
NM_001363840.3:c.1368+3A>G	NP_001350769.1:n.1368+3A>G
NR_134256.2:n.1458+3A>G