Canonical Allele Identifier: CA312338

Gene: ASL

Linked Data

• dbSNP Id: rs1554328490
• gnomAD v4: 7-66092865-T-G
• MyVariant Identifiers: chr7:g.65557852T>G (hg19) ; chr7:g.66092865T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092865T>G , CM000669.2:g.66092865T>G	GRCh38
NC_000007.13:g.65557852T>G , CM000669.1:g.65557852T>G	GRCh37
NC_000007.12:g.65195287T>G	NCBI36
NG_009288.1:g.22077T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1348T>G MANE Select	ENSP00000307188.9:p.Trp450Gly
ENST00000362000.10:c.1153T>G	ENSP00000354710.6:p.Trp385Gly
ENST00000380839.9:c.1270T>G	ENSP00000370219.4:p.Trp424Gly
ENST00000395331.4:c.1288T>G	ENSP00000378740.3:p.Trp430Gly
ENST00000395332.8:c.1348T>G	ENSP00000378741.3:p.Trp450Gly
ENST00000488343.2:c.148-39T>G	ENSP00000500864.1:n.148-39T>G
ENST00000672498.1:c.*751T>G	ENSP00000500227.1:n.*751T>G
ENST00000672586.1:n.2107T>G
ENST00000672676.1:n.2372T>G
ENST00000673149.1:n.1160T>G
ENST00000673350.1:n.3465T>G
ENST00000673518.1:c.1270T>G	ENSP00000499889.1:p.Trp424Gly
ENST00000304874.13:c.1348T>G	ENSP00000307188.9:p.Trp450Gly
ENST00000380839.8:c.1270T>G	ENSP00000370219.4:p.Trp424Gly
ENST00000395331.3:c.1288T>G	ENSP00000378740.3:p.Trp430Gly
ENST00000395332.7:c.1348T>G	ENSP00000378741.3:p.Trp450Gly
ENST00000450043.2:c.563+202T>G	ENSP00000396527.2:n.563+202T>G
ENST00000464970.1:n.551T>G
ENST00000488343.1:n.148-39T>G
ENST00000493708.5:n.829T>G
NM_000048.3:c.1348T>G	NP_000039.2:p.Trp450Gly
NM_001024943.1:c.1348T>G	NP_001020114.1:p.Trp450Gly
NM_001024944.1:c.1288T>G	NP_001020115.1:p.Trp430Gly
NM_001024946.1:c.1270T>G	NP_001020117.1:p.Trp424Gly
NM_000048.4:c.1348T>G MANE Select	NP_000039.2:p.Trp450Gly
NM_001024943.2:c.1348T>G	NP_001020114.1:p.Trp450Gly
NM_001024944.2:c.1288T>G	NP_001020115.1:p.Trp430Gly
NM_001024946.2:c.1270T>G	NP_001020117.1:p.Trp424Gly