Canonical Allele Identifier: CA367645310

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65553893T>A (hg19) ; chr7:g.66088906T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088906T>A , CM000669.2:g.66088906T>A	GRCh38
NC_000007.13:g.65553893T>A , CM000669.1:g.65553893T>A	GRCh37
NC_000007.12:g.65191328T>A	NCBI36
NG_009288.1:g.18118T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.818T>A MANE Select	ENSP00000307188.9:p.Leu273His
ENST00000362000.10:c.623T>A	ENSP00000354710.6:p.Leu208His
ENST00000380839.9:c.740T>A	ENSP00000370219.4:p.Leu247His
ENST00000395331.4:c.818T>A	ENSP00000378740.3:p.Leu273His
ENST00000395332.8:c.818T>A	ENSP00000378741.3:p.Leu273His
ENST00000671817.1:c.740T>A	ENSP00000500462.1:p.Leu247His
ENST00000672498.1:c.*117T>A	ENSP00000500227.1:n.*117T>A
ENST00000672586.1:n.1577T>A
ENST00000672676.1:n.1842T>A
ENST00000673149.1:n.630T>A
ENST00000673350.1:n.2935T>A
ENST00000673518.1:c.740T>A	ENSP00000499889.1:p.Leu247His
ENST00000304874.13:c.818T>A	ENSP00000307188.9:p.Leu273His
ENST00000362000.9:c.623T>A	ENSP00000354710.5:p.Leu208His
ENST00000380839.8:c.740T>A	ENSP00000370219.4:p.Leu247His
ENST00000395331.3:c.818T>A	ENSP00000378740.3:p.Leu273His
ENST00000395332.7:c.818T>A	ENSP00000378741.3:p.Leu273His
ENST00000450043.2:c.131T>A	ENSP00000396527.2:p.Leu44His
ENST00000493708.5:n.199T>A
NM_000048.3:c.818T>A	NP_000039.2:p.Leu273His
NM_001024943.1:c.818T>A	NP_001020114.1:p.Leu273His
NM_001024944.1:c.818T>A	NP_001020115.1:p.Leu273His
NM_001024946.1:c.740T>A	NP_001020117.1:p.Leu247His
NM_000048.4:c.818T>A MANE Select	NP_000039.2:p.Leu273His
NM_001024943.2:c.818T>A	NP_001020114.1:p.Leu273His
NM_001024944.2:c.818T>A	NP_001020115.1:p.Leu273His
NM_001024946.2:c.740T>A	NP_001020117.1:p.Leu247His