Canonical Allele Identifier: CA455680054

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554138C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089151C>T , CM000669.2:g.66089151C>T	GRCh38
NC_000007.13:g.65554138C>T , CM000669.1:g.65554138C>T	GRCh37
NC_000007.12:g.65191573C>T	NCBI36
NG_009288.1:g.18363C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.894C>T MANE Select	ENSP00000307188.9:p.Ser298=
ENST00000362000.10:c.699C>T	ENSP00000354710.6:p.Ser233=
ENST00000380839.9:c.816C>T	ENSP00000370219.4:p.Ser272=
ENST00000395331.4:c.894C>T	ENSP00000378740.3:p.Ser298=
ENST00000395332.8:c.894C>T	ENSP00000378741.3:p.Ser298=
ENST00000488343.2:c.63C>T	ENSP00000500864.1:p.Ser21=
ENST00000671817.1:c.816C>T	ENSP00000500462.1:p.Ser272=
ENST00000672498.1:c.*193C>T	ENSP00000500227.1:n.*193C>T
ENST00000672586.1:n.1653C>T
ENST00000672676.1:n.1918C>T
ENST00000673149.1:n.706C>T
ENST00000673350.1:n.3011C>T
ENST00000673518.1:c.816C>T	ENSP00000499889.1:p.Ser272=
ENST00000304874.13:c.894C>T	ENSP00000307188.9:p.Ser298=
ENST00000362000.9:c.699C>T	ENSP00000354710.5:p.Ser233=
ENST00000380839.8:c.816C>T	ENSP00000370219.4:p.Ser272=
ENST00000395331.3:c.894C>T	ENSP00000378740.3:p.Ser298=
ENST00000395332.7:c.894C>T	ENSP00000378741.3:p.Ser298=
ENST00000450043.2:c.207C>T	ENSP00000396527.2:p.Ser69=
ENST00000488343.1:n.63C>T
ENST00000493708.5:n.275C>T
NM_000048.3:c.894C>T	NP_000039.2:p.Ser298=
NM_001024943.1:c.894C>T	NP_001020114.1:p.Ser298=
NM_001024944.1:c.894C>T	NP_001020115.1:p.Ser298=
NM_001024946.1:c.816C>T	NP_001020117.1:p.Ser272=
NM_000048.4:c.894C>T MANE Select	NP_000039.2:p.Ser298=
NM_001024943.2:c.894C>T	NP_001020114.1:p.Ser298=
NM_001024944.2:c.894C>T	NP_001020115.1:p.Ser298=
NM_001024946.2:c.816C>T	NP_001020117.1:p.Ser272=