Canonical Allele Identifier: CA367645274

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65553878T>A (hg19) ; chr7:g.66088891T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088891T>A , CM000669.2:g.66088891T>A	GRCh38
NC_000007.13:g.65553878T>A , CM000669.1:g.65553878T>A	GRCh37
NC_000007.12:g.65191313T>A	NCBI36
NG_009288.1:g.18103T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.803T>A MANE Select	ENSP00000307188.9:p.Phe268Tyr
ENST00000362000.10:c.608T>A	ENSP00000354710.6:p.Phe203Tyr
ENST00000380839.9:c.725T>A	ENSP00000370219.4:p.Phe242Tyr
ENST00000395331.4:c.803T>A	ENSP00000378740.3:p.Phe268Tyr
ENST00000395332.8:c.803T>A	ENSP00000378741.3:p.Phe268Tyr
ENST00000671817.1:c.725T>A	ENSP00000500462.1:p.Phe242Tyr
ENST00000672498.1:c.*102T>A	ENSP00000500227.1:n.*102T>A
ENST00000672586.1:n.1562T>A
ENST00000672676.1:n.1827T>A
ENST00000673149.1:n.615T>A
ENST00000673350.1:n.2920T>A
ENST00000673518.1:c.725T>A	ENSP00000499889.1:p.Phe242Tyr
ENST00000304874.13:c.803T>A	ENSP00000307188.9:p.Phe268Tyr
ENST00000362000.9:c.608T>A	ENSP00000354710.5:p.Phe203Tyr
ENST00000380839.8:c.725T>A	ENSP00000370219.4:p.Phe242Tyr
ENST00000395331.3:c.803T>A	ENSP00000378740.3:p.Phe268Tyr
ENST00000395332.7:c.803T>A	ENSP00000378741.3:p.Phe268Tyr
ENST00000450043.2:c.116T>A	ENSP00000396527.2:p.Phe39Tyr
ENST00000493708.5:n.184T>A
NM_000048.3:c.803T>A	NP_000039.2:p.Phe268Tyr
NM_001024943.1:c.803T>A	NP_001020114.1:p.Phe268Tyr
NM_001024944.1:c.803T>A	NP_001020115.1:p.Phe268Tyr
NM_001024946.1:c.725T>A	NP_001020117.1:p.Phe242Tyr
NM_000048.4:c.803T>A MANE Select	NP_000039.2:p.Phe268Tyr
NM_001024943.2:c.803T>A	NP_001020114.1:p.Phe268Tyr
NM_001024944.2:c.803T>A	NP_001020115.1:p.Phe268Tyr
NM_001024946.2:c.725T>A	NP_001020117.1:p.Phe242Tyr