Canonical Allele Identifier: CA367645672

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554136A>T (hg19) ; chr7:g.66089149A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089149A>T , CM000669.2:g.66089149A>T	GRCh38
NC_000007.13:g.65554136A>T , CM000669.1:g.65554136A>T	GRCh37
NC_000007.12:g.65191571A>T	NCBI36
NG_009288.1:g.18361A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.892A>T MANE Select	ENSP00000307188.9:p.Ser298Cys
ENST00000362000.10:c.697A>T	ENSP00000354710.6:p.Ser233Cys
ENST00000380839.9:c.814A>T	ENSP00000370219.4:p.Ser272Cys
ENST00000395331.4:c.892A>T	ENSP00000378740.3:p.Ser298Cys
ENST00000395332.8:c.892A>T	ENSP00000378741.3:p.Ser298Cys
ENST00000488343.2:c.61A>T	ENSP00000500864.1:p.Ser21Cys
ENST00000671817.1:c.814A>T	ENSP00000500462.1:p.Ser272Cys
ENST00000672498.1:c.*191A>T	ENSP00000500227.1:n.*191A>T
ENST00000672586.1:n.1651A>T
ENST00000672676.1:n.1916A>T
ENST00000673149.1:n.704A>T
ENST00000673350.1:n.3009A>T
ENST00000673518.1:c.814A>T	ENSP00000499889.1:p.Ser272Cys
ENST00000304874.13:c.892A>T	ENSP00000307188.9:p.Ser298Cys
ENST00000362000.9:c.697A>T	ENSP00000354710.5:p.Ser233Cys
ENST00000380839.8:c.814A>T	ENSP00000370219.4:p.Ser272Cys
ENST00000395331.3:c.892A>T	ENSP00000378740.3:p.Ser298Cys
ENST00000395332.7:c.892A>T	ENSP00000378741.3:p.Ser298Cys
ENST00000450043.2:c.205A>T	ENSP00000396527.2:p.Ser69Cys
ENST00000488343.1:n.61A>T
ENST00000493708.5:n.273A>T
NM_000048.3:c.892A>T	NP_000039.2:p.Ser298Cys
NM_001024943.1:c.892A>T	NP_001020114.1:p.Ser298Cys
NM_001024944.1:c.892A>T	NP_001020115.1:p.Ser298Cys
NM_001024946.1:c.814A>T	NP_001020117.1:p.Ser272Cys
NM_000048.4:c.892A>T MANE Select	NP_000039.2:p.Ser298Cys
NM_001024943.2:c.892A>T	NP_001020114.1:p.Ser298Cys
NM_001024944.2:c.892A>T	NP_001020115.1:p.Ser298Cys
NM_001024946.2:c.814A>T	NP_001020117.1:p.Ser272Cys