Canonical Allele Identifier: CA367637793

Gene: ASL

Linked Data

• dbSNP Id: rs1354898778
• gnomAD v2: 7-65546833-C-G
• gnomAD v4: 7-66081846-C-G
• MyVariant Identifiers: chr7:g.65546833C>G (hg19) ; chr7:g.66081846C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66081846C>G , CM000669.2:g.66081846C>G	GRCh38
NC_000007.13:g.65546833C>G , CM000669.1:g.65546833C>G	GRCh37
NC_000007.12:g.65184268C>G	NCBI36
NG_009288.1:g.11058C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.56C>G MANE Select	ENSP00000307188.9:p.Pro19Arg
ENST00000362000.10:c.13-522C>G	ENSP00000354710.6:n.13-522C>G
ENST00000380839.9:c.56C>G	ENSP00000370219.4:p.Pro19Arg
ENST00000395331.4:c.56C>G	ENSP00000378740.3:p.Pro19Arg
ENST00000395332.8:c.56C>G	ENSP00000378741.3:p.Pro19Arg
ENST00000671817.1:c.56C>G	ENSP00000500462.1:p.Pro19Arg
ENST00000672498.1:c.56C>G	ENSP00000500227.1:p.Pro19Arg
ENST00000672586.1:n.113-522C>G
ENST00000672676.1:n.226C>G
ENST00000673350.1:n.304C>G
ENST00000673518.1:c.56C>G	ENSP00000499889.1:p.Pro19Arg
ENST00000304874.13:c.56C>G	ENSP00000307188.9:p.Pro19Arg
ENST00000362000.9:c.13-522C>G	ENSP00000354710.5:n.13-522C>G
ENST00000380839.8:c.56C>G	ENSP00000370219.4:p.Pro19Arg
ENST00000395331.3:c.56C>G	ENSP00000378740.3:p.Pro19Arg
ENST00000395332.7:c.56C>G	ENSP00000378741.3:p.Pro19Arg
ENST00000487982.5:n.122C>G
ENST00000496336.1:n.297C>G
NM_000048.3:c.56C>G	NP_000039.2:p.Pro19Arg
NM_001024943.1:c.56C>G	NP_001020114.1:p.Pro19Arg
NM_001024944.1:c.56C>G	NP_001020115.1:p.Pro19Arg
NM_001024946.1:c.56C>G	NP_001020117.1:p.Pro19Arg
NM_000048.4:c.56C>G MANE Select	NP_000039.2:p.Pro19Arg
NM_001024943.2:c.56C>G	NP_001020114.1:p.Pro19Arg
NM_001024944.2:c.56C>G	NP_001020115.1:p.Pro19Arg
NM_001024946.2:c.56C>G	NP_001020117.1:p.Pro19Arg