Canonical Allele Identifier: CA159930557

Gene: ASL

Linked Data

• dbSNP Id: rs996625048
• gnomAD v4: 7-66086703-A-C
• MyVariant Identifiers: chr7:g.65551690A>C (hg19) ; chr7:g.66086703A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086703A>C , CM000669.2:g.66086703A>C	GRCh38
NC_000007.13:g.65551690A>C , CM000669.1:g.65551690A>C	GRCh37
NC_000007.12:g.65189125A>C	NCBI36
NG_009288.1:g.15915A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.525-41A>C MANE Select	ENSP00000307188.9:n.525-41A>C
ENST00000362000.10:c.330-41A>C	ENSP00000354710.6:n.330-41A>C
ENST00000380839.9:c.524+41A>C	ENSP00000370219.4:n.524+41A>C
ENST00000395331.4:c.525-41A>C	ENSP00000378740.3:n.525-41A>C
ENST00000395332.8:c.525-41A>C	ENSP00000378741.3:n.525-41A>C
ENST00000671817.1:c.524+41A>C	ENSP00000500462.1:n.524+41A>C
ENST00000672498.1:c.447-1026A>C	ENSP00000500227.1:n.447-1026A>C
ENST00000672586.1:n.430-41A>C
ENST00000672676.1:n.695-41A>C
ENST00000673149.1:n.337-41A>C
ENST00000673350.1:n.773-41A>C
ENST00000673518.1:c.524+41A>C	ENSP00000499889.1:n.524+41A>C
ENST00000673594.1:n.374-41A>C
ENST00000304874.13:c.525-41A>C	ENSP00000307188.9:n.525-41A>C
ENST00000362000.9:c.330-41A>C	ENSP00000354710.5:n.330-41A>C
ENST00000380839.8:c.524+41A>C	ENSP00000370219.4:n.524+41A>C
ENST00000395331.3:c.525-41A>C	ENSP00000378740.3:n.525-41A>C
ENST00000395332.7:c.525-41A>C	ENSP00000378741.3:n.525-41A>C
ENST00000487982.5:n.591-41A>C
NM_000048.3:c.525-41A>C	NP_000039.2:n.525-41A>C
NM_001024943.1:c.525-41A>C	NP_001020114.1:n.525-41A>C
NM_001024944.1:c.525-41A>C	NP_001020115.1:n.525-41A>C
NM_001024946.1:c.524+41A>C	NP_001020117.1:n.524+41A>C
NM_000048.4:c.525-41A>C MANE Select	NP_000039.2:n.525-41A>C
NM_001024943.2:c.525-41A>C	NP_001020114.1:n.525-41A>C
NM_001024944.2:c.525-41A>C	NP_001020115.1:n.525-41A>C
NM_001024946.2:c.524+41A>C	NP_001020117.1:n.524+41A>C