Canonical Allele Identifier: CA4276970

Gene: ASL

Linked Data

• ClinVar Variation Id: 552765
• ClinVar RCV Id: RCV000668088 ; RCV001584537
• dbSNP Id: rs778254333
• ExAC: 7:65551571 G / A
• gnomAD v2: 7-65551571-G-A
• gnomAD v3: 7-66086584-G-A
• gnomAD v4: 7-66086584-G-A
• MyVariant Identifiers: chr7:g.65551571G>A (hg19) ; chr7:g.66086584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086584G>A , CM000669.2:g.66086584G>A	GRCh38
NC_000007.13:g.65551571G>A , CM000669.1:g.65551571G>A	GRCh37
NC_000007.12:g.65189006G>A	NCBI36
NG_009288.1:g.15796G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.447-1G>A MANE Select	ENSP00000307188.9:n.447-1G>A
ENST00000362000.10:c.252-1G>A	ENSP00000354710.6:n.252-1G>A
ENST00000380839.9:c.447-1G>A	ENSP00000370219.4:n.447-1G>A
ENST00000395331.4:c.447-1G>A	ENSP00000378740.3:n.447-1G>A
ENST00000395332.8:c.447-1G>A	ENSP00000378741.3:n.447-1G>A
ENST00000671817.1:c.447-1G>A	ENSP00000500462.1:n.447-1G>A
ENST00000672498.1:c.447-1145G>A	ENSP00000500227.1:n.447-1145G>A
ENST00000672586.1:n.352-1G>A
ENST00000672676.1:n.617-1G>A
ENST00000673149.1:n.259-1G>A
ENST00000673350.1:n.695-1G>A
ENST00000673518.1:c.447-1G>A	ENSP00000499889.1:n.447-1G>A
ENST00000673594.1:n.296-1G>A
ENST00000304874.13:c.447-1G>A	ENSP00000307188.9:n.447-1G>A
ENST00000362000.9:c.252-1G>A	ENSP00000354710.5:n.252-1G>A
ENST00000380839.8:c.447-1G>A	ENSP00000370219.4:n.447-1G>A
ENST00000395331.3:c.447-1G>A	ENSP00000378740.3:n.447-1G>A
ENST00000395332.7:c.447-1G>A	ENSP00000378741.3:n.447-1G>A
ENST00000487982.5:n.513-1G>A
NM_000048.3:c.447-1G>A	NP_000039.2:n.447-1G>A
NM_001024943.1:c.447-1G>A	NP_001020114.1:n.447-1G>A
NM_001024944.1:c.447-1G>A	NP_001020115.1:n.447-1G>A
NM_001024946.1:c.447-1G>A	NP_001020117.1:n.447-1G>A
NM_000048.4:c.447-1G>A MANE Select	NP_000039.2:n.447-1G>A
NM_001024943.2:c.447-1G>A	NP_001020114.1:n.447-1G>A
NM_001024944.2:c.447-1G>A	NP_001020115.1:n.447-1G>A
NM_001024946.2:c.447-1G>A	NP_001020117.1:n.447-1G>A