Canonical Allele Identifier: CA2683086540

Gene: ASL

Linked Data

• ClinVar Variation Id: 2762777
• ClinVar RCV Id: RCV003498673
• gnomAD v4: 7-66087806-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66087806G>C , CM000669.2:g.66087806G>C	GRCh38
NC_000007.13:g.65552793G>C , CM000669.1:g.65552793G>C	GRCh37
NC_000007.12:g.65190228G>C	NCBI36
NG_009288.1:g.17018G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.718+15G>C MANE Select	ENSP00000307188.9:n.718+15G>C
ENST00000362000.10:c.523+15G>C	ENSP00000354710.6:n.523+15G>C
ENST00000380839.9:c.640+15G>C	ENSP00000370219.4:n.640+15G>C
ENST00000395331.4:c.718+15G>C	ENSP00000378740.3:n.718+15G>C
ENST00000395332.8:c.718+15G>C	ENSP00000378741.3:n.718+15G>C
ENST00000671817.1:c.640+15G>C	ENSP00000500462.1:n.640+15G>C
ENST00000672498.1:c.*17+15G>C	ENSP00000500227.1:n.*17+15G>C
ENST00000672586.1:n.1477+15G>C
ENST00000672676.1:n.1742+15G>C
ENST00000673149.1:n.530+15G>C
ENST00000673350.1:n.1835G>C
ENST00000673518.1:c.640+15G>C	ENSP00000499889.1:n.640+15G>C
ENST00000304874.13:c.718+15G>C	ENSP00000307188.9:n.718+15G>C
ENST00000362000.9:c.523+15G>C	ENSP00000354710.5:n.523+15G>C
ENST00000380839.8:c.640+15G>C	ENSP00000370219.4:n.640+15G>C
ENST00000395331.3:c.718+15G>C	ENSP00000378740.3:n.718+15G>C
ENST00000395332.7:c.718+15G>C	ENSP00000378741.3:n.718+15G>C
ENST00000450043.2:c.31+15G>C	ENSP00000396527.2:n.31+15G>C
ENST00000493708.5:n.99+15G>C
NM_000048.3:c.718+15G>C	NP_000039.2:n.718+15G>C
NM_001024943.1:c.718+15G>C	NP_001020114.1:n.718+15G>C
NM_001024944.1:c.718+15G>C	NP_001020115.1:n.718+15G>C
NM_001024946.1:c.640+15G>C	NP_001020117.1:n.640+15G>C
NM_000048.4:c.718+15G>C MANE Select	NP_000039.2:n.718+15G>C
NM_001024943.2:c.718+15G>C	NP_001020114.1:n.718+15G>C
NM_001024944.2:c.718+15G>C	NP_001020115.1:n.718+15G>C
NM_001024946.2:c.640+15G>C	NP_001020117.1:n.640+15G>C