Canonical Allele Identifier: CA1713940726
Gene: ASL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66082980T= , CM000669.2:g.66082980T= GRCh38
NC_000007.13:g.65547967T= , CM000669.1:g.65547967T= GRCh37
NC_000007.12:g.65185402T= NCBI36
NG_009288.1:g.12192T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304874.14:c.348+44T= MANE Select ENSP00000307188.9:n.348+44T=
ENST00000362000.10:c.153+44T= ENSP00000354710.6:n.153+44T=
ENST00000380839.9:c.348+44T= ENSP00000370219.4:n.348+44T=
ENST00000395331.4:c.348+44T= ENSP00000378740.3:n.348+44T=
ENST00000395332.8:c.348+44T= ENSP00000378741.3:n.348+44T=
ENST00000671817.1:c.348+44T= ENSP00000500462.1:n.348+44T=
ENST00000672498.1:c.348+44T= ENSP00000500227.1:n.348+44T=
ENST00000672586.1:n.253+44T=
ENST00000672676.1:n.518+44T=
ENST00000673149.1:n.160+44T=
ENST00000673350.1:n.596+44T=
ENST00000673518.1:c.348+44T= ENSP00000499889.1:n.348+44T=
ENST00000673594.1:n.197+44T=
ENST00000304874.13:c.348+44T= ENSP00000307188.9:n.348+44T=
ENST00000362000.9:c.153+44T= ENSP00000354710.5:n.153+44T=
ENST00000380839.8:c.348+44T= ENSP00000370219.4:n.348+44T=
ENST00000395331.3:c.348+44T= ENSP00000378740.3:n.348+44T=
ENST00000395332.7:c.348+44T= ENSP00000378741.3:n.348+44T=
ENST00000487982.5:n.414+44T=
ENST00000496336.1:n.633T=
NM_000048.3:c.348+44T= NP_000039.2:n.348+44T=
NM_001024943.1:c.348+44T= NP_001020114.1:n.348+44T=
NM_001024944.1:c.348+44T= NP_001020115.1:n.348+44T=
NM_001024946.1:c.348+44T= NP_001020117.1:n.348+44T=
NM_000048.4:c.348+44T= MANE Select NP_000039.2:n.348+44T=
NM_001024943.2:c.348+44T= NP_001020114.1:n.348+44T=
NM_001024944.2:c.348+44T= NP_001020115.1:n.348+44T=
NM_001024946.2:c.348+44T= NP_001020117.1:n.348+44T=