Canonical Allele Identifier: CA2683084984

Gene: ASL

Linked Data

• ClinVar Variation Id: 2733643
• ClinVar RCV Id: RCV003499898
• gnomAD v4: 7-66086839-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086839G>A , CM000669.2:g.66086839G>A	GRCh38
NC_000007.13:g.65551826G>A , CM000669.1:g.65551826G>A	GRCh37
NC_000007.12:g.65189261G>A	NCBI36
NG_009288.1:g.16051G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.602+18G>A MANE Select	ENSP00000307188.9:n.602+18G>A
ENST00000362000.10:c.407+18G>A	ENSP00000354710.6:n.407+18G>A
ENST00000380839.9:c.524+177G>A	ENSP00000370219.4:n.524+177G>A
ENST00000395331.4:c.602+18G>A	ENSP00000378740.3:n.602+18G>A
ENST00000395332.8:c.602+18G>A	ENSP00000378741.3:n.602+18G>A
ENST00000671817.1:c.524+177G>A	ENSP00000500462.1:n.524+177G>A
ENST00000672498.1:c.447-890G>A	ENSP00000500227.1:n.447-890G>A
ENST00000672586.1:n.525G>A
ENST00000672676.1:n.790G>A
ENST00000673149.1:n.414+18G>A
ENST00000673350.1:n.868G>A
ENST00000673518.1:c.524+177G>A	ENSP00000499889.1:n.524+177G>A
ENST00000673594.1:n.451+18G>A
ENST00000304874.13:c.602+18G>A	ENSP00000307188.9:n.602+18G>A
ENST00000362000.9:c.407+18G>A	ENSP00000354710.5:n.407+18G>A
ENST00000380839.8:c.524+177G>A	ENSP00000370219.4:n.524+177G>A
ENST00000395331.3:c.602+18G>A	ENSP00000378740.3:n.602+18G>A
ENST00000395332.7:c.602+18G>A	ENSP00000378741.3:n.602+18G>A
ENST00000487982.5:n.686G>A
NM_000048.3:c.602+18G>A	NP_000039.2:n.602+18G>A
NM_001024943.1:c.602+18G>A	NP_001020114.1:n.602+18G>A
NM_001024944.1:c.602+18G>A	NP_001020115.1:n.602+18G>A
NM_001024946.1:c.524+177G>A	NP_001020117.1:n.524+177G>A
NM_000048.4:c.602+18G>A MANE Select	NP_000039.2:n.602+18G>A
NM_001024943.2:c.602+18G>A	NP_001020114.1:n.602+18G>A
NM_001024944.2:c.602+18G>A	NP_001020115.1:n.602+18G>A
NM_001024946.2:c.524+177G>A	NP_001020117.1:n.524+177G>A