Allele Registry

Canonical Allele Identifier: CA357219

Gene: ASL HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.66092877C>T

GRCh37 chr7:g.65557864C>T

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000210614

ClinVar Variation:

224979

dbSNP:

869312994

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092877C>T , CM000669.2:g.66092877C>T	GRCh38
NC_000007.13:g.65557864C>T , CM000669.1:g.65557864C>T	GRCh37
NC_000007.12:g.65195299C>T	NCBI36
NG_009288.1:g.22089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1360C>T MANE Select	ENSP00000307188.9:p.Gln454Ter
ENST00000362000.10:c.1165C>T	ENSP00000354710.6:p.Gln389Ter
ENST00000380839.9:c.1282C>T	ENSP00000370219.4:p.Gln428Ter
ENST00000395331.4:c.1300C>T	ENSP00000378740.3:p.Gln434Ter
ENST00000395332.8:c.1360C>T	ENSP00000378741.3:p.Gln454Ter
ENST00000488343.2:c.148-27C>T	ENSP00000500864.1:n.148-27C>T
ENST00000672498.1:c.*763C>T	ENSP00000500227.1:n.*763C>T
ENST00000672586.1:n.2119C>T
ENST00000672676.1:n.2384C>T
ENST00000673149.1:n.1172C>T
ENST00000673350.1:n.3477C>T
ENST00000673518.1:c.1282C>T	ENSP00000499889.1:p.Gln428Ter
ENST00000304874.13:c.1360C>T	ENSP00000307188.9:p.Gln454Ter
ENST00000380839.8:c.1282C>T	ENSP00000370219.4:p.Gln428Ter
ENST00000395331.3:c.1300C>T	ENSP00000378740.3:p.Gln434Ter
ENST00000395332.7:c.1360C>T	ENSP00000378741.3:p.Gln454Ter
ENST00000450043.2:c.563+214C>T	ENSP00000396527.2:n.563+214C>T
ENST00000464970.1:n.563C>T
ENST00000488343.1:n.148-27C>T
ENST00000493708.5:n.841C>T
NM_000048.3:c.1360C>T	NP_000039.2:p.Gln454Ter
NM_001024943.1:c.1360C>T	NP_001020114.1:p.Gln454Ter
NM_001024944.1:c.1300C>T	NP_001020115.1:p.Gln434Ter
NM_001024946.1:c.1282C>T	NP_001020117.1:p.Gln428Ter
NM_000048.4:c.1360C>T MANE Select	NP_000039.2:p.Gln454Ter
NM_001024943.2:c.1360C>T	NP_001020114.1:p.Gln454Ter
NM_001024944.2:c.1300C>T	NP_001020115.1:p.Gln434Ter
NM_001024946.2:c.1282C>T	NP_001020117.1:p.Gln428Ter

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