Canonical Allele Identifier: CA4276977

Gene: ASL

Linked Data

• ClinVar Variation Id: 1107927
• ClinVar RCV Id: RCV001433241
• dbSNP Id: rs748316235
• ExAC: 7:65551593 G / A
• gnomAD v2: 7-65551593-G-A
• gnomAD v3: 7-66086606-G-A
• gnomAD v4: 7-66086606-G-A
• MyVariant Identifiers: chr7:g.65551593G>A (hg19) ; chr7:g.66086606G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66086606G>A , CM000669.2:g.66086606G>A	GRCh38
NC_000007.13:g.65551593G>A , CM000669.1:g.65551593G>A	GRCh37
NC_000007.12:g.65189028G>A	NCBI36
NG_009288.1:g.15818G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304874.14:c.468G>A MANE Select	ENSP00000307188.9:p.Pro156=
ENST00000362000.10:c.273G>A	ENSP00000354710.6:p.Pro91=
ENST00000380839.9:c.468G>A	ENSP00000370219.4:p.Pro156=
ENST00000395331.4:c.468G>A	ENSP00000378740.3:p.Pro156=
ENST00000395332.8:c.468G>A	ENSP00000378741.3:p.Pro156=
ENST00000671817.1:c.468G>A	ENSP00000500462.1:p.Pro156=
ENST00000672498.1:c.447-1123G>A	ENSP00000500227.1:n.447-1123G>A
ENST00000672586.1:n.373G>A
ENST00000672676.1:n.638G>A
ENST00000673149.1:n.280G>A
ENST00000673350.1:n.716G>A
ENST00000673518.1:c.468G>A	ENSP00000499889.1:p.Pro156=
ENST00000673594.1:n.317G>A
ENST00000304874.13:c.468G>A	ENSP00000307188.9:p.Pro156=
ENST00000362000.9:c.273G>A	ENSP00000354710.5:p.Pro91=
ENST00000380839.8:c.468G>A	ENSP00000370219.4:p.Pro156=
ENST00000395331.3:c.468G>A	ENSP00000378740.3:p.Pro156=
ENST00000395332.7:c.468G>A	ENSP00000378741.3:p.Pro156=
ENST00000487982.5:n.534G>A
NM_000048.3:c.468G>A	NP_000039.2:p.Pro156=
NM_001024943.1:c.468G>A	NP_001020114.1:p.Pro156=
NM_001024944.1:c.468G>A	NP_001020115.1:p.Pro156=
NM_001024946.1:c.468G>A	NP_001020117.1:p.Pro156=
NM_000048.4:c.468G>A MANE Select	NP_000039.2:p.Pro156=
NM_001024943.2:c.468G>A	NP_001020114.1:p.Pro156=
NM_001024944.2:c.468G>A	NP_001020115.1:p.Pro156=
NM_001024946.2:c.468G>A	NP_001020117.1:p.Pro156=