Canonical Allele Identifier: CA159942713
Gene: ASL HGNC NCBI

Linked Data

dbSNP Id: rs940600301
gnomAD v2: 7-65557769-G-A
gnomAD v4: 7-66092782-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092782G>A , CM000669.2:g.66092782G>A GRCh38
NC_000007.13:g.65557769G>A , CM000669.1:g.65557769G>A GRCh37
NC_000007.12:g.65195204G>A NCBI36
NG_009288.1:g.21994G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.1265G>A MANE Select ENSP00000307188.9:p.Gly422Asp
ENST00000362000.10:c.1070G>A ENSP00000354710.6:p.Gly357Asp
ENST00000380839.9:c.1187G>A ENSP00000370219.4:p.Gly396Asp
ENST00000395331.4:c.1205G>A ENSP00000378740.3:p.Gly402Asp
ENST00000395332.8:c.1265G>A ENSP00000378741.3:p.Gly422Asp
ENST00000488343.2:c.148-122G>A ENSP00000500864.1:n.148-122G>A
ENST00000672498.1:c.*668G>A ENSP00000500227.1:n.*668G>A
ENST00000672586.1:n.2024G>A
ENST00000672676.1:n.2289G>A
ENST00000673149.1:n.1077G>A
ENST00000673350.1:n.3382G>A
ENST00000673518.1:c.1187G>A ENSP00000499889.1:p.Gly396Asp
ENST00000304874.13:c.1265G>A ENSP00000307188.9:p.Gly422Asp
ENST00000380839.8:c.1187G>A ENSP00000370219.4:p.Gly396Asp
ENST00000395331.3:c.1205G>A ENSP00000378740.3:p.Gly402Asp
ENST00000395332.7:c.1265G>A ENSP00000378741.3:p.Gly422Asp
ENST00000450043.2:c.563+119G>A ENSP00000396527.2:n.563+119G>A
ENST00000464970.1:n.468G>A
ENST00000488343.1:n.148-122G>A
ENST00000493708.5:n.746G>A
NM_000048.3:c.1265G>A NP_000039.2:p.Gly422Asp
NM_001024943.1:c.1265G>A NP_001020114.1:p.Gly422Asp
NM_001024944.1:c.1205G>A NP_001020115.1:p.Gly402Asp
NM_001024946.1:c.1187G>A NP_001020117.1:p.Gly396Asp
NM_000048.4:c.1265G>A MANE Select NP_000039.2:p.Gly422Asp
NM_001024943.2:c.1265G>A NP_001020114.1:p.Gly422Asp
NM_001024944.2:c.1205G>A NP_001020115.1:p.Gly402Asp
NM_001024946.2:c.1187G>A NP_001020117.1:p.Gly396Asp