Canonical Allele Identifier: CA4276906

Gene: ASL

Linked Data

• ClinVar Variation Id: 553111
• ClinVar RCV Id: RCV000668492
• dbSNP Id: rs767543051
• ExAC: 7:65547912 C / T
• gnomAD v2: 7-65547912-C-T
• gnomAD v3: 7-66082925-C-T
• gnomAD v4: 7-66082925-C-T
• MyVariant Identifiers: chr7:g.65547912C>T (hg19) ; chr7:g.66082925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66082925C>T , CM000669.2:g.66082925C>T	GRCh38
NC_000007.13:g.65547912C>T , CM000669.1:g.65547912C>T	GRCh37
NC_000007.12:g.65185347C>T	NCBI36
NG_009288.1:g.12137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.337C>T MANE Select	ENSP00000307188.9:p.Arg113Trp
ENST00000362000.10:c.142C>T	ENSP00000354710.6:p.Arg48Trp
ENST00000380839.9:c.337C>T	ENSP00000370219.4:p.Arg113Trp
ENST00000395331.4:c.337C>T	ENSP00000378740.3:p.Arg113Trp
ENST00000395332.8:c.337C>T	ENSP00000378741.3:p.Arg113Trp
ENST00000671817.1:c.337C>T	ENSP00000500462.1:p.Arg113Trp
ENST00000672498.1:c.337C>T	ENSP00000500227.1:p.Arg113Trp
ENST00000672586.1:n.242C>T
ENST00000672676.1:n.507C>T
ENST00000673149.1:n.149C>T
ENST00000673350.1:n.585C>T
ENST00000673518.1:c.337C>T	ENSP00000499889.1:p.Arg113Trp
ENST00000673594.1:n.186C>T
ENST00000304874.13:c.337C>T	ENSP00000307188.9:p.Arg113Trp
ENST00000362000.9:c.142C>T	ENSP00000354710.5:p.Arg48Trp
ENST00000380839.8:c.337C>T	ENSP00000370219.4:p.Arg113Trp
ENST00000395331.3:c.337C>T	ENSP00000378740.3:p.Arg113Trp
ENST00000395332.7:c.337C>T	ENSP00000378741.3:p.Arg113Trp
ENST00000487982.5:n.403C>T
ENST00000496336.1:n.578C>T
NM_000048.3:c.337C>T	NP_000039.2:p.Arg113Trp
NM_001024943.1:c.337C>T	NP_001020114.1:p.Arg113Trp
NM_001024944.1:c.337C>T	NP_001020115.1:p.Arg113Trp
NM_001024946.1:c.337C>T	NP_001020117.1:p.Arg113Trp
NM_000048.4:c.337C>T MANE Select	NP_000039.2:p.Arg113Trp
NM_001024943.2:c.337C>T	NP_001020114.1:p.Arg113Trp
NM_001024944.2:c.337C>T	NP_001020115.1:p.Arg113Trp
NM_001024946.2:c.337C>T	NP_001020117.1:p.Arg113Trp