Canonical Allele Identifier: CA4277128

Gene: ASL

Linked Data

• ClinVar Variation Id: 1151998
• ClinVar RCV Id: RCV001493168
• dbSNP Id: rs375586912
• ExAC: 7:65553846 C / T
• gnomAD v2: 7-65553846-C-T
• gnomAD v3: 7-66088859-C-T
• gnomAD v4: 7-66088859-C-T
• COSMIC: COSM1091320
• MyVariant Identifiers: chr7:g.65553846C>T (hg19) ; chr7:g.66088859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088859C>T , CM000669.2:g.66088859C>T	GRCh38
NC_000007.13:g.65553846C>T , CM000669.1:g.65553846C>T	GRCh37
NC_000007.12:g.65191281C>T	NCBI36
NG_009288.1:g.18071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.771C>T MANE Select	ENSP00000307188.9:p.Ala257=
ENST00000362000.10:c.576C>T	ENSP00000354710.6:p.Ala192=
ENST00000380839.9:c.693C>T	ENSP00000370219.4:p.Ala231=
ENST00000395331.4:c.771C>T	ENSP00000378740.3:p.Ala257=
ENST00000395332.8:c.771C>T	ENSP00000378741.3:p.Ala257=
ENST00000671817.1:c.693C>T	ENSP00000500462.1:p.Ala231=
ENST00000672498.1:c.*70C>T	ENSP00000500227.1:n.*70C>T
ENST00000672586.1:n.1530C>T
ENST00000672676.1:n.1795C>T
ENST00000673149.1:n.583C>T
ENST00000673350.1:n.2888C>T
ENST00000673518.1:c.693C>T	ENSP00000499889.1:p.Ala231=
ENST00000304874.13:c.771C>T	ENSP00000307188.9:p.Ala257=
ENST00000362000.9:c.576C>T	ENSP00000354710.5:p.Ala192=
ENST00000380839.8:c.693C>T	ENSP00000370219.4:p.Ala231=
ENST00000395331.3:c.771C>T	ENSP00000378740.3:p.Ala257=
ENST00000395332.7:c.771C>T	ENSP00000378741.3:p.Ala257=
ENST00000450043.2:c.84C>T	ENSP00000396527.2:p.Ala28=
ENST00000493708.5:n.152C>T
NM_000048.3:c.771C>T	NP_000039.2:p.Ala257=
NM_001024943.1:c.771C>T	NP_001020114.1:p.Ala257=
NM_001024944.1:c.771C>T	NP_001020115.1:p.Ala257=
NM_001024946.1:c.693C>T	NP_001020117.1:p.Ala231=
NM_000048.4:c.771C>T MANE Select	NP_000039.2:p.Ala257=
NM_001024943.2:c.771C>T	NP_001020114.1:p.Ala257=
NM_001024944.2:c.771C>T	NP_001020115.1:p.Ala257=
NM_001024946.2:c.693C>T	NP_001020117.1:p.Ala231=