Canonical Allele Identifier: CA367645546

Gene: ASL

Linked Data

• dbSNP Id: rs1187108483
• gnomAD v2: 7-65554118-A-C
• gnomAD v3: 7-66089131-A-C
• gnomAD v4: 7-66089131-A-C
• MyVariant Identifiers: chr7:g.65554118A>C (hg19) ; chr7:g.66089131A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089131A>C , CM000669.2:g.66089131A>C	GRCh38
NC_000007.13:g.65554118A>C , CM000669.1:g.65554118A>C	GRCh37
NC_000007.12:g.65191553A>C	NCBI36
NG_009288.1:g.18343A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.874A>C MANE Select	ENSP00000307188.9:p.Ser292Arg
ENST00000362000.10:c.679A>C	ENSP00000354710.6:p.Ser227Arg
ENST00000380839.9:c.796A>C	ENSP00000370219.4:p.Ser266Arg
ENST00000395331.4:c.874A>C	ENSP00000378740.3:p.Ser292Arg
ENST00000395332.8:c.874A>C	ENSP00000378741.3:p.Ser292Arg
ENST00000488343.2:c.43A>C	ENSP00000500864.1:p.Ser15Arg
ENST00000671817.1:c.796A>C	ENSP00000500462.1:p.Ser266Arg
ENST00000672498.1:c.*173A>C	ENSP00000500227.1:n.*173A>C
ENST00000672586.1:n.1633A>C
ENST00000672676.1:n.1898A>C
ENST00000673149.1:n.686A>C
ENST00000673350.1:n.2991A>C
ENST00000673518.1:c.796A>C	ENSP00000499889.1:p.Ser266Arg
ENST00000304874.13:c.874A>C	ENSP00000307188.9:p.Ser292Arg
ENST00000362000.9:c.679A>C	ENSP00000354710.5:p.Ser227Arg
ENST00000380839.8:c.796A>C	ENSP00000370219.4:p.Ser266Arg
ENST00000395331.3:c.874A>C	ENSP00000378740.3:p.Ser292Arg
ENST00000395332.7:c.874A>C	ENSP00000378741.3:p.Ser292Arg
ENST00000450043.2:c.187A>C	ENSP00000396527.2:p.Ser63Arg
ENST00000488343.1:n.43A>C
ENST00000493708.5:n.255A>C
NM_000048.3:c.874A>C	NP_000039.2:p.Ser292Arg
NM_001024943.1:c.874A>C	NP_001020114.1:p.Ser292Arg
NM_001024944.1:c.874A>C	NP_001020115.1:p.Ser292Arg
NM_001024946.1:c.796A>C	NP_001020117.1:p.Ser266Arg
NM_000048.4:c.874A>C MANE Select	NP_000039.2:p.Ser292Arg
NM_001024943.2:c.874A>C	NP_001020114.1:p.Ser292Arg
NM_001024944.2:c.874A>C	NP_001020115.1:p.Ser292Arg
NM_001024946.2:c.796A>C	NP_001020117.1:p.Ser266Arg