Canonical Allele Identifier: CA367645321

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65553898G>T (hg19) ; chr7:g.66088911G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088911G>T , CM000669.2:g.66088911G>T	GRCh38
NC_000007.13:g.65553898G>T , CM000669.1:g.65553898G>T	GRCh37
NC_000007.12:g.65191333G>T	NCBI36
NG_009288.1:g.18123G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.823G>T MANE Select	ENSP00000307188.9:p.Asp275Tyr
ENST00000362000.10:c.628G>T	ENSP00000354710.6:p.Asp210Tyr
ENST00000380839.9:c.745G>T	ENSP00000370219.4:p.Asp249Tyr
ENST00000395331.4:c.823G>T	ENSP00000378740.3:p.Asp275Tyr
ENST00000395332.8:c.823G>T	ENSP00000378741.3:p.Asp275Tyr
ENST00000671817.1:c.745G>T	ENSP00000500462.1:p.Asp249Tyr
ENST00000672498.1:c.*122G>T	ENSP00000500227.1:n.*122G>T
ENST00000672586.1:n.1582G>T
ENST00000672676.1:n.1847G>T
ENST00000673149.1:n.635G>T
ENST00000673350.1:n.2940G>T
ENST00000673518.1:c.745G>T	ENSP00000499889.1:p.Asp249Tyr
ENST00000304874.13:c.823G>T	ENSP00000307188.9:p.Asp275Tyr
ENST00000362000.9:c.628G>T	ENSP00000354710.5:p.Asp210Tyr
ENST00000380839.8:c.745G>T	ENSP00000370219.4:p.Asp249Tyr
ENST00000395331.3:c.823G>T	ENSP00000378740.3:p.Asp275Tyr
ENST00000395332.7:c.823G>T	ENSP00000378741.3:p.Asp275Tyr
ENST00000450043.2:c.136G>T	ENSP00000396527.2:p.Asp46Tyr
ENST00000493708.5:n.204G>T
NM_000048.3:c.823G>T	NP_000039.2:p.Asp275Tyr
NM_001024943.1:c.823G>T	NP_001020114.1:p.Asp275Tyr
NM_001024944.1:c.823G>T	NP_001020115.1:p.Asp275Tyr
NM_001024946.1:c.745G>T	NP_001020117.1:p.Asp249Tyr
NM_000048.4:c.823G>T MANE Select	NP_000039.2:p.Asp275Tyr
NM_001024943.2:c.823G>T	NP_001020114.1:p.Asp275Tyr
NM_001024944.2:c.823G>T	NP_001020115.1:p.Asp275Tyr
NM_001024946.2:c.745G>T	NP_001020117.1:p.Asp249Tyr