Canonical Allele Identifier: CA367646085

Gene: ASL

Linked Data

• MyVariant Identifiers: chr7:g.65554264G>T (hg19) ; chr7:g.66089277G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089277G>T , CM000669.2:g.66089277G>T	GRCh38
NC_000007.13:g.65554264G>T , CM000669.1:g.65554264G>T	GRCh37
NC_000007.12:g.65191699G>T	NCBI36
NG_009288.1:g.18489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.920G>T MANE Select	ENSP00000307188.9:p.Cys307Phe
ENST00000362000.10:c.725G>T	ENSP00000354710.6:p.Cys242Phe
ENST00000380839.9:c.842G>T	ENSP00000370219.4:p.Cys281Phe
ENST00000395331.4:c.918+102G>T	ENSP00000378740.3:n.918+102G>T
ENST00000395332.8:c.920G>T	ENSP00000378741.3:p.Cys307Phe
ENST00000488343.2:c.89G>T	ENSP00000500864.1:p.Cys30Phe
ENST00000671817.1:c.842G>T	ENSP00000500462.1:p.Cys281Phe
ENST00000672498.1:c.*219G>T	ENSP00000500227.1:n.*219G>T
ENST00000672586.1:n.1679G>T
ENST00000672676.1:n.1944G>T
ENST00000673149.1:n.732G>T
ENST00000673350.1:n.3037G>T
ENST00000673518.1:c.842G>T	ENSP00000499889.1:p.Cys281Phe
ENST00000304874.13:c.920G>T	ENSP00000307188.9:p.Cys307Phe
ENST00000380839.8:c.842G>T	ENSP00000370219.4:p.Cys281Phe
ENST00000395331.3:c.918+102G>T	ENSP00000378740.3:n.918+102G>T
ENST00000395332.7:c.920G>T	ENSP00000378741.3:p.Cys307Phe
ENST00000450043.2:c.233G>T	ENSP00000396527.2:p.Cys78Phe
ENST00000464970.1:n.39G>T
ENST00000488343.1:n.89G>T
ENST00000493708.5:n.401G>T
NM_000048.3:c.920G>T	NP_000039.2:p.Cys307Phe
NM_001024943.1:c.920G>T	NP_001020114.1:p.Cys307Phe
NM_001024944.1:c.918+102G>T	NP_001020115.1:n.918+102G>T
NM_001024946.1:c.842G>T	NP_001020117.1:p.Cys281Phe
NM_000048.4:c.920G>T MANE Select	NP_000039.2:p.Cys307Phe
NM_001024943.2:c.920G>T	NP_001020114.1:p.Cys307Phe
NM_001024944.2:c.918+102G>T	NP_001020115.1:n.918+102G>T
NM_001024946.2:c.842G>T	NP_001020117.1:p.Cys281Phe