Canonical Allele Identifier: CA367646132

Gene: ASL

Linked Data

• dbSNP Id: rs769506424
• MyVariant Identifiers: chr7:g.65554269G>T (hg19) ; chr7:g.66089282G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089282G>T , CM000669.2:g.66089282G>T	GRCh38
NC_000007.13:g.65554269G>T , CM000669.1:g.65554269G>T	GRCh37
NC_000007.12:g.65191704G>T	NCBI36
NG_009288.1:g.18494G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.925G>T MANE Select	ENSP00000307188.9:p.Gly309Trp
ENST00000362000.10:c.730G>T	ENSP00000354710.6:p.Gly244Trp
ENST00000380839.9:c.847G>T	ENSP00000370219.4:p.Gly283Trp
ENST00000395331.4:c.918+107G>T	ENSP00000378740.3:n.918+107G>T
ENST00000395332.8:c.925G>T	ENSP00000378741.3:p.Gly309Trp
ENST00000488343.2:c.94G>T	ENSP00000500864.1:p.Gly32Trp
ENST00000671817.1:c.847G>T	ENSP00000500462.1:p.Gly283Trp
ENST00000672498.1:c.*224G>T	ENSP00000500227.1:n.*224G>T
ENST00000672586.1:n.1684G>T
ENST00000672676.1:n.1949G>T
ENST00000673149.1:n.737G>T
ENST00000673350.1:n.3042G>T
ENST00000673518.1:c.847G>T	ENSP00000499889.1:p.Gly283Trp
ENST00000304874.13:c.925G>T	ENSP00000307188.9:p.Gly309Trp
ENST00000380839.8:c.847G>T	ENSP00000370219.4:p.Gly283Trp
ENST00000395331.3:c.918+107G>T	ENSP00000378740.3:n.918+107G>T
ENST00000395332.7:c.925G>T	ENSP00000378741.3:p.Gly309Trp
ENST00000450043.2:c.238G>T	ENSP00000396527.2:p.Gly80Trp
ENST00000464970.1:n.44G>T
ENST00000488343.1:n.94G>T
ENST00000493708.5:n.406G>T
NM_000048.3:c.925G>T	NP_000039.2:p.Gly309Trp
NM_001024943.1:c.925G>T	NP_001020114.1:p.Gly309Trp
NM_001024944.1:c.918+107G>T	NP_001020115.1:n.918+107G>T
NM_001024946.1:c.847G>T	NP_001020117.1:p.Gly283Trp
NM_000048.4:c.925G>T MANE Select	NP_000039.2:p.Gly309Trp
NM_001024943.2:c.925G>T	NP_001020114.1:p.Gly309Trp
NM_001024944.2:c.918+107G>T	NP_001020115.1:n.918+107G>T
NM_001024946.2:c.847G>T	NP_001020117.1:p.Gly283Trp