Canonical Allele Identifier: CA1713928858
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66092779C= , CM000669.2:g.66092779C= GRCh38
NC_000007.13:g.65557766C= , CM000669.1:g.65557766C= GRCh37
NC_000007.12:g.65195201C= NCBI36
NG_009288.1:g.21991C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.1262C= MANE Select ENSP00000307188.9:p.Ser421=
ENST00000362000.10:c.1067C= ENSP00000354710.6:p.Ser356=
ENST00000380839.9:c.1184C= ENSP00000370219.4:p.Ser395=
ENST00000395331.4:c.1202C= ENSP00000378740.3:p.Ser401=
ENST00000395332.8:c.1262C= ENSP00000378741.3:p.Ser421=
ENST00000488343.2:c.148-125C= ENSP00000500864.1:n.148-125C=
ENST00000672498.1:c.*665C= ENSP00000500227.1:n.*665C=
ENST00000672586.1:n.2021C=
ENST00000672676.1:n.2286C=
ENST00000673149.1:n.1074C=
ENST00000673350.1:n.3379C=
ENST00000673518.1:c.1184C= ENSP00000499889.1:p.Ser395=
ENST00000304874.13:c.1262C= ENSP00000307188.9:p.Ser421=
ENST00000380839.8:c.1184C= ENSP00000370219.4:p.Ser395=
ENST00000395331.3:c.1202C= ENSP00000378740.3:p.Ser401=
ENST00000395332.7:c.1262C= ENSP00000378741.3:p.Ser421=
ENST00000450043.2:c.563+116C= ENSP00000396527.2:n.563+116C=
ENST00000464970.1:n.465C=
ENST00000488343.1:n.148-125C=
ENST00000493708.5:n.743C=
NM_000048.3:c.1262C= NP_000039.2:p.Ser421=
NM_001024943.1:c.1262C= NP_001020114.1:p.Ser421=
NM_001024944.1:c.1202C= NP_001020115.1:p.Ser401=
NM_001024946.1:c.1184C= NP_001020117.1:p.Ser395=
NM_000048.4:c.1262C= MANE Select NP_000039.2:p.Ser421=
NM_001024943.2:c.1262C= NP_001020114.1:p.Ser421=
NM_001024944.2:c.1202C= NP_001020115.1:p.Ser401=
NM_001024946.2:c.1184C= NP_001020117.1:p.Ser395=