Canonical Allele Identifier: CA4277156

Gene: ASL

Linked Data

• dbSNP Id: rs781340332
• ExAC: 7:65554080 C / T
• gnomAD v2: 7-65554080-C-T
• gnomAD v4: 7-66089093-C-T
• MyVariant Identifiers: chr7:g.65554080C>T (hg19) ; chr7:g.66089093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66089093C>T , CM000669.2:g.66089093C>T	GRCh38
NC_000007.13:g.65554080C>T , CM000669.1:g.65554080C>T	GRCh37
NC_000007.12:g.65191515C>T	NCBI36
NG_009288.1:g.18305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.836C>T MANE Select	ENSP00000307188.9:p.Thr279Met
ENST00000362000.10:c.641C>T	ENSP00000354710.6:p.Thr214Met
ENST00000380839.9:c.758C>T	ENSP00000370219.4:p.Thr253Met
ENST00000395331.4:c.836C>T	ENSP00000378740.3:p.Thr279Met
ENST00000395332.8:c.836C>T	ENSP00000378741.3:p.Thr279Met
ENST00000488343.2:c.5C>T	ENSP00000500864.1:p.Thr2Met
ENST00000671817.1:c.758C>T	ENSP00000500462.1:p.Thr253Met
ENST00000672498.1:c.*135C>T	ENSP00000500227.1:n.*135C>T
ENST00000672586.1:n.1595C>T
ENST00000672676.1:n.1860C>T
ENST00000673149.1:n.648C>T
ENST00000673350.1:n.2953C>T
ENST00000673518.1:c.758C>T	ENSP00000499889.1:p.Thr253Met
ENST00000304874.13:c.836C>T	ENSP00000307188.9:p.Thr279Met
ENST00000362000.9:c.641C>T	ENSP00000354710.5:p.Thr214Met
ENST00000380839.8:c.758C>T	ENSP00000370219.4:p.Thr253Met
ENST00000395331.3:c.836C>T	ENSP00000378740.3:p.Thr279Met
ENST00000395332.7:c.836C>T	ENSP00000378741.3:p.Thr279Met
ENST00000450043.2:c.149C>T	ENSP00000396527.2:p.Thr50Met
ENST00000488343.1:n.5C>T
ENST00000493708.5:n.217C>T
NM_000048.3:c.836C>T	NP_000039.2:p.Thr279Met
NM_001024943.1:c.836C>T	NP_001020114.1:p.Thr279Met
NM_001024944.1:c.836C>T	NP_001020115.1:p.Thr279Met
NM_001024946.1:c.758C>T	NP_001020117.1:p.Thr253Met
NM_000048.4:c.836C>T MANE Select	NP_000039.2:p.Thr279Met
NM_001024943.2:c.836C>T	NP_001020114.1:p.Thr279Met
NM_001024944.2:c.836C>T	NP_001020115.1:p.Thr279Met
NM_001024946.2:c.758C>T	NP_001020117.1:p.Thr253Met