Canonical Allele Identifier: CA455449965

Gene: ASL

Linked Data

• ClinVar Variation Id: 2006151
• ClinVar RCV Id: RCV002837617
• dbSNP Id: rs1246679761
• gnomAD v2: 7-65547399-T-C
• gnomAD v4: 7-66082412-T-C
• MyVariant Identifiers: chr7:g.65547399T>C (hg19) ; chr7:g.66082412T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082412T>C , CM000669.2:g.66082412T>C	GRCh38
NC_000007.13:g.65547399T>C , CM000669.1:g.65547399T>C	GRCh37
NC_000007.12:g.65184834T>C	NCBI36
NG_009288.1:g.11624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.252T>C MANE Select	ENSP00000307188.9:p.Asn84=
ENST00000362000.10:c.57T>C	ENSP00000354710.6:p.Asn19=
ENST00000380839.9:c.252T>C	ENSP00000370219.4:p.Asn84=
ENST00000395331.4:c.252T>C	ENSP00000378740.3:p.Asn84=
ENST00000395332.8:c.252T>C	ENSP00000378741.3:p.Asn84=
ENST00000671817.1:c.252T>C	ENSP00000500462.1:p.Asn84=
ENST00000672498.1:c.252T>C	ENSP00000500227.1:p.Asn84=
ENST00000672586.1:n.157T>C
ENST00000672676.1:n.422T>C
ENST00000673350.1:n.500T>C
ENST00000673518.1:c.252T>C	ENSP00000499889.1:p.Asn84=
ENST00000673594.1:n.101T>C
ENST00000304874.13:c.252T>C	ENSP00000307188.9:p.Asn84=
ENST00000362000.9:c.57T>C	ENSP00000354710.5:p.Asn19=
ENST00000380839.8:c.252T>C	ENSP00000370219.4:p.Asn84=
ENST00000395331.3:c.252T>C	ENSP00000378740.3:p.Asn84=
ENST00000395332.7:c.252T>C	ENSP00000378741.3:p.Asn84=
ENST00000487982.5:n.318T>C
ENST00000496336.1:n.493T>C
NM_000048.3:c.252T>C	NP_000039.2:p.Asn84=
NM_001024943.1:c.252T>C	NP_001020114.1:p.Asn84=
NM_001024944.1:c.252T>C	NP_001020115.1:p.Asn84=
NM_001024946.1:c.252T>C	NP_001020117.1:p.Asn84=
NM_000048.4:c.252T>C MANE Select	NP_000039.2:p.Asn84=
NM_001024943.2:c.252T>C	NP_001020114.1:p.Asn84=
NM_001024944.2:c.252T>C	NP_001020115.1:p.Asn84=
NM_001024946.2:c.252T>C	NP_001020117.1:p.Asn84=