Canonical Allele Identifier: CA341323359

Gene: AGL

Linked Data

• ClinVar Variation Id: 1020831
• ClinVar RCV Id: RCV001320478
• dbSNP Id: rs1218915839
• gnomAD v2: 1-100316602-G-A
• MyVariant Identifiers: chr1:g.100316602G>A (hg19) ; chr1:g.99851046G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851046G>A , CM000663.2:g.99851046G>A	GRCh38
NC_000001.10:g.100316602G>A , CM000663.1:g.100316602G>A	GRCh37
NC_000001.9:g.100089190G>A	NCBI36
NG_012865.1:g.5963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.4G>A MANE Select	ENSP00000355106.3:p.Gly2Arg
ENST00000294724.8:c.4G>A	ENSP00000294724.4:p.Gly2Arg
ENST00000361302.7:c.-188G>A	ENSP00000354971.3:n.-188G>A
ENST00000361915.7:c.4G>A	ENSP00000355106.3:p.Gly2Arg
ENST00000370163.7:c.4G>A	ENSP00000359182.3:p.Gly2Arg
ENST00000370165.7:c.4G>A	ENSP00000359184.3:p.Gly2Arg
NM_000028.2:c.4G>A	NP_000019.2:p.Gly2Arg
NM_000642.2:c.4G>A	NP_000633.2:p.Gly2Arg
NM_000643.2:c.4G>A	NP_000634.2:p.Gly2Arg
NM_000644.2:c.4G>A	NP_000635.2:p.Gly2Arg
NM_000646.2:c.-188G>A	NP_000637.2:n.-188G>A
XM_005270557.1:c.4G>A	XP_005270614.1:p.Gly2Arg
XM_005270557.2:c.4G>A	XP_005270614.1:p.Gly2Arg
NM_000642.3:c.4G>A MANE Select	NP_000633.2:p.Gly2Arg