Canonical Allele Identifier: CA341325374

Gene: AGL

Linked Data

• ClinVar Variation Id: 1424669
• ClinVar RCV Id: RCV001923942
• dbSNP Id: rs1170310851
• gnomAD v4: 1-99891343-G-A
• MyVariant Identifiers: chr1:g.100356899G>A (hg19) ; chr1:g.99891343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891343G>A , CM000663.2:g.99891343G>A	GRCh38
NC_000001.10:g.100356899G>A , CM000663.1:g.100356899G>A	GRCh37
NC_000001.9:g.100129487G>A	NCBI36
NG_012865.1:g.46260G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.2936G>A MANE Select	ENSP00000355106.3:p.Gly979Glu
ENST00000637337.1:n.3147G>A
ENST00000294724.8:c.2936G>A	ENSP00000294724.4:p.Gly979Glu
ENST00000361302.7:c.2888G>A	ENSP00000354971.3:p.Gly963Glu
ENST00000361522.4:c.2885G>A	ENSP00000354635.4:p.Gly962Glu
ENST00000361915.7:c.2936G>A	ENSP00000355106.3:p.Gly979Glu
ENST00000370161.6:c.2888G>A	ENSP00000359180.2:p.Gly963Glu
ENST00000370163.7:c.2936G>A	ENSP00000359182.3:p.Gly979Glu
ENST00000370165.7:c.2936G>A	ENSP00000359184.3:p.Gly979Glu
NM_000028.2:c.2936G>A	NP_000019.2:p.Gly979Glu
NM_000642.2:c.2936G>A	NP_000633.2:p.Gly979Glu
NM_000643.2:c.2936G>A	NP_000634.2:p.Gly979Glu
NM_000644.2:c.2936G>A	NP_000635.2:p.Gly979Glu
NM_000645.2:c.2885G>A	NP_000636.2:p.Gly962Glu
NM_000646.2:c.2888G>A	NP_000637.2:p.Gly963Glu
XM_005270557.1:c.2936G>A	XP_005270614.1:p.Gly979Glu
XM_005270557.2:c.2936G>A	XP_005270614.1:p.Gly979Glu
XM_017000501.2:c.1196G>A	XP_016855990.1:p.Gly399Glu
NM_000642.3:c.2936G>A MANE Select	NP_000633.2:p.Gly979Glu