Canonical Allele Identifier: CA367645587

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554125A>T (hg19) ; chr7:g.66089138A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089138A>T , CM000669.2:g.66089138A>T	GRCh38
NC_000007.13:g.65554125A>T , CM000669.1:g.65554125A>T	GRCh37
NC_000007.12:g.65191560A>T	NCBI36
NG_009288.1:g.18350A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.881A>T MANE Select	ENSP00000307188.9:p.Glu294Val
ENST00000362000.10:c.686A>T	ENSP00000354710.6:p.Glu229Val
ENST00000380839.9:c.803A>T	ENSP00000370219.4:p.Glu268Val
ENST00000395331.4:c.881A>T	ENSP00000378740.3:p.Glu294Val
ENST00000395332.8:c.881A>T	ENSP00000378741.3:p.Glu294Val
ENST00000488343.2:c.50A>T	ENSP00000500864.1:p.Glu17Val
ENST00000671817.1:c.803A>T	ENSP00000500462.1:p.Glu268Val
ENST00000672498.1:c.*180A>T	ENSP00000500227.1:n.*180A>T
ENST00000672586.1:n.1640A>T
ENST00000672676.1:n.1905A>T
ENST00000673149.1:n.693A>T
ENST00000673350.1:n.2998A>T
ENST00000673518.1:c.803A>T	ENSP00000499889.1:p.Glu268Val
ENST00000304874.13:c.881A>T	ENSP00000307188.9:p.Glu294Val
ENST00000362000.9:c.686A>T	ENSP00000354710.5:p.Glu229Val
ENST00000380839.8:c.803A>T	ENSP00000370219.4:p.Glu268Val
ENST00000395331.3:c.881A>T	ENSP00000378740.3:p.Glu294Val
ENST00000395332.7:c.881A>T	ENSP00000378741.3:p.Glu294Val
ENST00000450043.2:c.194A>T	ENSP00000396527.2:p.Glu65Val
ENST00000488343.1:n.50A>T
ENST00000493708.5:n.262A>T
NM_000048.3:c.881A>T	NP_000039.2:p.Glu294Val
NM_001024943.1:c.881A>T	NP_001020114.1:p.Glu294Val
NM_001024944.1:c.881A>T	NP_001020115.1:p.Glu294Val
NM_001024946.1:c.803A>T	NP_001020117.1:p.Glu268Val
NM_000048.4:c.881A>T MANE Select	NP_000039.2:p.Glu294Val
NM_001024943.2:c.881A>T	NP_001020114.1:p.Glu294Val
NM_001024944.2:c.881A>T	NP_001020115.1:p.Glu294Val
NM_001024946.2:c.803A>T	NP_001020117.1:p.Glu268Val