Canonical Allele Identifier: CA367637482

Gene: ASL

Linked Data

• ClinVar Variation Id: 553491
• ClinVar RCV Id: RCV000668958
• dbSNP Id: rs1554326239
• COSMIC: COSM127079
• MyVariant Identifiers: chr7:g.65546789G>C (hg19) ; chr7:g.66081802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66081802G>C , CM000669.2:g.66081802G>C	GRCh38
NC_000007.13:g.65546789G>C , CM000669.1:g.65546789G>C	GRCh37
NC_000007.12:g.65184224G>C	NCBI36
NG_009288.1:g.11014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.13-1G>C MANE Select	ENSP00000307188.9:n.13-1G>C
ENST00000362000.10:c.13-566G>C	ENSP00000354710.6:n.13-566G>C
ENST00000380839.9:c.13-1G>C	ENSP00000370219.4:n.13-1G>C
ENST00000395331.4:c.13-1G>C	ENSP00000378740.3:n.13-1G>C
ENST00000395332.8:c.13-1G>C	ENSP00000378741.3:n.13-1G>C
ENST00000671817.1:c.13-1G>C	ENSP00000500462.1:n.13-1G>C
ENST00000672498.1:c.13-1G>C	ENSP00000500227.1:n.13-1G>C
ENST00000672586.1:n.113-566G>C
ENST00000672676.1:n.183-1G>C
ENST00000673350.1:n.261-1G>C
ENST00000673518.1:c.13-1G>C	ENSP00000499889.1:n.13-1G>C
ENST00000304874.13:c.13-1G>C	ENSP00000307188.9:n.13-1G>C
ENST00000362000.9:c.13-566G>C	ENSP00000354710.5:n.13-566G>C
ENST00000380839.8:c.13-1G>C	ENSP00000370219.4:n.13-1G>C
ENST00000395331.3:c.13-1G>C	ENSP00000378740.3:n.13-1G>C
ENST00000395332.7:c.13-1G>C	ENSP00000378741.3:n.13-1G>C
ENST00000487982.5:n.79-1G>C
ENST00000496336.1:n.254-1G>C
NM_000048.3:c.13-1G>C	NP_000039.2:n.13-1G>C
NM_001024943.1:c.13-1G>C	NP_001020114.1:n.13-1G>C
NM_001024944.1:c.13-1G>C	NP_001020115.1:n.13-1G>C
NM_001024946.1:c.13-1G>C	NP_001020117.1:n.13-1G>C
NM_000048.4:c.13-1G>C MANE Select	NP_000039.2:n.13-1G>C
NM_001024943.2:c.13-1G>C	NP_001020114.1:n.13-1G>C
NM_001024944.2:c.13-1G>C	NP_001020115.1:n.13-1G>C
NM_001024946.2:c.13-1G>C	NP_001020117.1:n.13-1G>C