Canonical Allele Identifier: CA159942780

Gene: ASL

Linked Data

• ClinVar Variation Id: 507133
• ClinVar RCV Id: RCV000615837 ; RCV001450288
• dbSNP Id: rs977248418
• gnomAD v2: 7-65557797-G-A
• gnomAD v3: 7-66092810-G-A
• gnomAD v4: 7-66092810-G-A
• MyVariant Identifiers: chr7:g.65557797G>A (hg19) ; chr7:g.65557797_65557799delinsACA (hg19) ; chr7:g.66092810G>A (hg38) ; chr7:g.66092810_66092812delinsACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66092810G>A , CM000669.2:g.66092810G>A	GRCh38
NC_000007.13:g.65557797G>A , CM000669.1:g.65557797G>A	GRCh37
NC_000007.12:g.65195232G>A	NCBI36
NG_009288.1:g.22022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304874.14:c.1293G>A MANE Select	ENSP00000307188.9:p.Gly431=
ENST00000362000.10:c.1098G>A	ENSP00000354710.6:p.Gly366=
ENST00000380839.9:c.1215G>A	ENSP00000370219.4:p.Gly405=
ENST00000395331.4:c.1233G>A	ENSP00000378740.3:p.Gly411=
ENST00000395332.8:c.1293G>A	ENSP00000378741.3:p.Gly431=
ENST00000488343.2:c.148-94G>A	ENSP00000500864.1:n.148-94G>A
ENST00000672498.1:c.*696G>A	ENSP00000500227.1:n.*696G>A
ENST00000672586.1:n.2052G>A
ENST00000672676.1:n.2317G>A
ENST00000673149.1:n.1105G>A
ENST00000673350.1:n.3410G>A
ENST00000673518.1:c.1215G>A	ENSP00000499889.1:p.Gly405=
ENST00000304874.13:c.1293G>A	ENSP00000307188.9:p.Gly431=
ENST00000380839.8:c.1215G>A	ENSP00000370219.4:p.Gly405=
ENST00000395331.3:c.1233G>A	ENSP00000378740.3:p.Gly411=
ENST00000395332.7:c.1293G>A	ENSP00000378741.3:p.Gly431=
ENST00000450043.2:c.563+147G>A	ENSP00000396527.2:n.563+147G>A
ENST00000464970.1:n.496G>A
ENST00000488343.1:n.148-94G>A
ENST00000493708.5:n.774G>A
NM_000048.3:c.1293G>A	NP_000039.2:p.Gly431=
NM_001024943.1:c.1293G>A	NP_001020114.1:p.Gly431=
NM_001024944.1:c.1233G>A	NP_001020115.1:p.Gly411=
NM_001024946.1:c.1215G>A	NP_001020117.1:p.Gly405=
NM_000048.4:c.1293G>A MANE Select	NP_000039.2:p.Gly431=
NM_001024943.2:c.1293G>A	NP_001020114.1:p.Gly431=
NM_001024944.2:c.1233G>A	NP_001020115.1:p.Gly411=
NM_001024946.2:c.1215G>A	NP_001020117.1:p.Gly405=