Canonical Allele Identifier: CA357229
Gene: ASL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 224975
ClinVar RCV Id: RCV000210713
dbSNP Id: rs869312990

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66087796G>A , CM000669.2:g.66087796G>A GRCh38
NC_000007.13:g.65552783G>A , CM000669.1:g.65552783G>A GRCh37
NC_000007.12:g.65190218G>A NCBI36
NG_009288.1:g.17008G>A

Transcript Alleles

HGVS Amino-acid change
NM_000048.3:c.718+5G>A VV NP_000039.2:p.=
NM_001024943.1:c.718+5G>A VV NP_001020114.1:p.=
NM_001024944.1:c.718+5G>A VV NP_001020115.1:p.=
NM_001024946.1:c.640+5G>A VV NP_001020117.1:p.=
ENST00000304874.13:c.718+5G>A ENSP00000307188.9:p.=
ENST00000362000.9:c.523+5G>A ENSP00000354710.5:p.=
ENST00000380839.8:c.640+5G>A ENSP00000370219.4:p.=
ENST00000395331.3:c.718+5G>A ENSP00000378740.3:p.=
ENST00000395332.7:c.718+5G>A ENSP00000378741.3:p.=
ENST00000450043.2:n.31+5G>A ENSP00000396527.2:p.=
ENST00000493708.5:n.99+5G>A