Canonical Allele Identifier: CA367638261

Gene: ASL

Linked Data

• ClinVar Variation Id: 2851810
• ClinVar RCV Id: RCV003604919
• dbSNP Id: rs1299719647
• gnomAD v2: 7-65546922-C-A
• gnomAD v4: 7-66081935-C-A
• MyVariant Identifiers: chr7:g.65546922C>A (hg19) ; chr7:g.66081935C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66081935C>A , CM000669.2:g.66081935C>A	GRCh38
NC_000007.13:g.65546922C>A , CM000669.1:g.65546922C>A	GRCh37
NC_000007.12:g.65184357C>A	NCBI36
NG_009288.1:g.11147C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.145C>A MANE Select	ENSP00000307188.9:p.Leu49Met
ENST00000362000.10:c.13-433C>A	ENSP00000354710.6:n.13-433C>A
ENST00000380839.9:c.145C>A	ENSP00000370219.4:p.Leu49Met
ENST00000395331.4:c.145C>A	ENSP00000378740.3:p.Leu49Met
ENST00000395332.8:c.145C>A	ENSP00000378741.3:p.Leu49Met
ENST00000671817.1:c.145C>A	ENSP00000500462.1:p.Leu49Met
ENST00000672498.1:c.145C>A	ENSP00000500227.1:p.Leu49Met
ENST00000672586.1:n.113-433C>A
ENST00000672676.1:n.315C>A
ENST00000673350.1:n.393C>A
ENST00000673518.1:c.145C>A	ENSP00000499889.1:p.Leu49Met
ENST00000304874.13:c.145C>A	ENSP00000307188.9:p.Leu49Met
ENST00000362000.9:c.13-433C>A	ENSP00000354710.5:n.13-433C>A
ENST00000380839.8:c.145C>A	ENSP00000370219.4:p.Leu49Met
ENST00000395331.3:c.145C>A	ENSP00000378740.3:p.Leu49Met
ENST00000395332.7:c.145C>A	ENSP00000378741.3:p.Leu49Met
ENST00000487982.5:n.211C>A
ENST00000496336.1:n.386C>A
NM_000048.3:c.145C>A	NP_000039.2:p.Leu49Met
NM_001024943.1:c.145C>A	NP_001020114.1:p.Leu49Met
NM_001024944.1:c.145C>A	NP_001020115.1:p.Leu49Met
NM_001024946.1:c.145C>A	NP_001020117.1:p.Leu49Met
NM_000048.4:c.145C>A MANE Select	NP_000039.2:p.Leu49Met
NM_001024943.2:c.145C>A	NP_001020114.1:p.Leu49Met
NM_001024944.2:c.145C>A	NP_001020115.1:p.Leu49Met
NM_001024946.2:c.145C>A	NP_001020117.1:p.Leu49Met