Canonical Allele Identifier: CA455679997

Gene: ASL

Linked Data

• ClinVar Variation Id: 2739114
• ClinVar RCV Id: RCV003497446
• dbSNP Id: rs1786750045
• gnomAD v4: 7-66088874-C-G
• MyVariant Identifiers: chr7:g.65553861C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088874C>G , CM000669.2:g.66088874C>G	GRCh38
NC_000007.13:g.65553861C>G , CM000669.1:g.65553861C>G	GRCh37
NC_000007.12:g.65191296C>G	NCBI36
NG_009288.1:g.18086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.786C>G MANE Select	ENSP00000307188.9:p.Leu262=
ENST00000362000.10:c.591C>G	ENSP00000354710.6:p.Leu197=
ENST00000380839.9:c.708C>G	ENSP00000370219.4:p.Leu236=
ENST00000395331.4:c.786C>G	ENSP00000378740.3:p.Leu262=
ENST00000395332.8:c.786C>G	ENSP00000378741.3:p.Leu262=
ENST00000671817.1:c.708C>G	ENSP00000500462.1:p.Leu236=
ENST00000672498.1:c.*85C>G	ENSP00000500227.1:n.*85C>G
ENST00000672586.1:n.1545C>G
ENST00000672676.1:n.1810C>G
ENST00000673149.1:n.598C>G
ENST00000673350.1:n.2903C>G
ENST00000673518.1:c.708C>G	ENSP00000499889.1:p.Leu236=
ENST00000304874.13:c.786C>G	ENSP00000307188.9:p.Leu262=
ENST00000362000.9:c.591C>G	ENSP00000354710.5:p.Leu197=
ENST00000380839.8:c.708C>G	ENSP00000370219.4:p.Leu236=
ENST00000395331.3:c.786C>G	ENSP00000378740.3:p.Leu262=
ENST00000395332.7:c.786C>G	ENSP00000378741.3:p.Leu262=
ENST00000450043.2:c.99C>G	ENSP00000396527.2:p.Leu33=
ENST00000493708.5:n.167C>G
NM_000048.3:c.786C>G	NP_000039.2:p.Leu262=
NM_001024943.1:c.786C>G	NP_001020114.1:p.Leu262=
NM_001024944.1:c.786C>G	NP_001020115.1:p.Leu262=
NM_001024946.1:c.708C>G	NP_001020117.1:p.Leu236=
NM_000048.4:c.786C>G MANE Select	NP_000039.2:p.Leu262=
NM_001024943.2:c.786C>G	NP_001020114.1:p.Leu262=
NM_001024944.2:c.786C>G	NP_001020115.1:p.Leu262=
NM_001024946.2:c.708C>G	NP_001020117.1:p.Leu236=