Canonical Allele Identifier: CA367652437
Gene: ASL HGNC NCBI

Linked Data

dbSNP Id: rs1165773472
gnomAD v3: 7-66092772-C-G
gnomAD v4: 7-66092772-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092772C>G , CM000669.2:g.66092772C>G GRCh38
NC_000007.13:g.65557759C>G , CM000669.1:g.65557759C>G GRCh37
NC_000007.12:g.65195194C>G NCBI36
NG_009288.1:g.21984C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.1255C>G MANE Select ENSP00000307188.9:p.Leu419Val
ENST00000362000.10:c.1060C>G ENSP00000354710.6:p.Leu354Val
ENST00000380839.9:c.1177C>G ENSP00000370219.4:p.Leu393Val
ENST00000395331.4:c.1195C>G ENSP00000378740.3:p.Leu399Val
ENST00000395332.8:c.1255C>G ENSP00000378741.3:p.Leu419Val
ENST00000488343.2:c.148-132C>G ENSP00000500864.1:n.148-132C>G
ENST00000672498.1:c.*658C>G ENSP00000500227.1:n.*658C>G
ENST00000672586.1:n.2014C>G
ENST00000672676.1:n.2279C>G
ENST00000673149.1:n.1067C>G
ENST00000673350.1:n.3372C>G
ENST00000673518.1:c.1177C>G ENSP00000499889.1:p.Leu393Val
ENST00000304874.13:c.1255C>G ENSP00000307188.9:p.Leu419Val
ENST00000380839.8:c.1177C>G ENSP00000370219.4:p.Leu393Val
ENST00000395331.3:c.1195C>G ENSP00000378740.3:p.Leu399Val
ENST00000395332.7:c.1255C>G ENSP00000378741.3:p.Leu419Val
ENST00000450043.2:c.563+109C>G ENSP00000396527.2:n.563+109C>G
ENST00000464970.1:n.458C>G
ENST00000488343.1:n.148-132C>G
ENST00000493708.5:n.736C>G
NM_000048.3:c.1255C>G NP_000039.2:p.Leu419Val
NM_001024943.1:c.1255C>G NP_001020114.1:p.Leu419Val
NM_001024944.1:c.1195C>G NP_001020115.1:p.Leu399Val
NM_001024946.1:c.1177C>G NP_001020117.1:p.Leu393Val
NM_000048.4:c.1255C>G MANE Select NP_000039.2:p.Leu419Val
NM_001024943.2:c.1255C>G NP_001020114.1:p.Leu419Val
NM_001024944.2:c.1195C>G NP_001020115.1:p.Leu399Val
NM_001024946.2:c.1177C>G NP_001020117.1:p.Leu393Val