Canonical Allele Identifier: CA367645289

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65553883T>G (hg19) ; chr7:g.66088896T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66088896T>G , CM000669.2:g.66088896T>G	GRCh38
NC_000007.13:g.65553883T>G , CM000669.1:g.65553883T>G	GRCh37
NC_000007.12:g.65191318T>G	NCBI36
NG_009288.1:g.18108T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.808T>G MANE Select	ENSP00000307188.9:p.Phe270Val
ENST00000362000.10:c.613T>G	ENSP00000354710.6:p.Phe205Val
ENST00000380839.9:c.730T>G	ENSP00000370219.4:p.Phe244Val
ENST00000395331.4:c.808T>G	ENSP00000378740.3:p.Phe270Val
ENST00000395332.8:c.808T>G	ENSP00000378741.3:p.Phe270Val
ENST00000671817.1:c.730T>G	ENSP00000500462.1:p.Phe244Val
ENST00000672498.1:c.*107T>G	ENSP00000500227.1:n.*107T>G
ENST00000672586.1:n.1567T>G
ENST00000672676.1:n.1832T>G
ENST00000673149.1:n.620T>G
ENST00000673350.1:n.2925T>G
ENST00000673518.1:c.730T>G	ENSP00000499889.1:p.Phe244Val
ENST00000304874.13:c.808T>G	ENSP00000307188.9:p.Phe270Val
ENST00000362000.9:c.613T>G	ENSP00000354710.5:p.Phe205Val
ENST00000380839.8:c.730T>G	ENSP00000370219.4:p.Phe244Val
ENST00000395331.3:c.808T>G	ENSP00000378740.3:p.Phe270Val
ENST00000395332.7:c.808T>G	ENSP00000378741.3:p.Phe270Val
ENST00000450043.2:c.121T>G	ENSP00000396527.2:p.Phe41Val
ENST00000493708.5:n.189T>G
NM_000048.3:c.808T>G	NP_000039.2:p.Phe270Val
NM_001024943.1:c.808T>G	NP_001020114.1:p.Phe270Val
NM_001024944.1:c.808T>G	NP_001020115.1:p.Phe270Val
NM_001024946.1:c.730T>G	NP_001020117.1:p.Phe244Val
NM_000048.4:c.808T>G MANE Select	NP_000039.2:p.Phe270Val
NM_001024943.2:c.808T>G	NP_001020114.1:p.Phe270Val
NM_001024944.2:c.808T>G	NP_001020115.1:p.Phe270Val
NM_001024946.2:c.730T>G	NP_001020117.1:p.Phe244Val