Canonical Allele Identifier: CA114755

Gene: AGL

Linked Data

• ClinVar Variation Id: 1096
• ClinVar RCV Id: RCV000001154 ; RCV000020375 ; RCV000578784
• dbSNP Id: rs113994129
• ExAC: 1:100346885 G / A
• gnomAD v2: 1-100346885-G-A
• gnomAD v3: 1-99881329-G-A
• gnomAD v4: 1-99881329-G-A
• MyVariant Identifiers: chr1:g.100346885G>A (hg19) ; chr1:g.99881329G>A (hg38)
• PubMed: PMID:8755644 ; PMID:20301788

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881329G>A , CM000663.2:g.99881329G>A	GRCh38
NC_000001.10:g.100346885G>A , CM000663.1:g.100346885G>A	GRCh37
NC_000001.9:g.100119473G>A	NCBI36
NG_012865.1:g.36246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.2039G>A MANE Select	ENSP00000355106.3:p.Trp680Ter
ENST00000637337.1:n.2250G>A
ENST00000294724.8:c.2039G>A	ENSP00000294724.4:p.Trp680Ter
ENST00000361302.7:c.1991G>A	ENSP00000354971.3:p.Trp664Ter
ENST00000361522.4:c.1988G>A	ENSP00000354635.4:p.Trp663Ter
ENST00000361915.7:c.2039G>A	ENSP00000355106.3:p.Trp680Ter
ENST00000370161.6:c.1991G>A	ENSP00000359180.2:p.Trp664Ter
ENST00000370163.7:c.2039G>A	ENSP00000359182.3:p.Trp680Ter
ENST00000370165.7:c.2039G>A	ENSP00000359184.3:p.Trp680Ter
NM_000028.2:c.2039G>A	NP_000019.2:p.Trp680Ter
NM_000642.2:c.2039G>A	NP_000633.2:p.Trp680Ter
NM_000643.2:c.2039G>A	NP_000634.2:p.Trp680Ter
NM_000644.2:c.2039G>A	NP_000635.2:p.Trp680Ter
NM_000645.2:c.1988G>A	NP_000636.2:p.Trp663Ter
NM_000646.2:c.1991G>A	NP_000637.2:p.Trp664Ter
XM_005270557.1:c.2039G>A	XP_005270614.1:p.Trp680Ter
XM_005270557.2:c.2039G>A	XP_005270614.1:p.Trp680Ter
XM_017000501.2:c.299G>A	XP_016855990.1:p.Trp100Ter
NM_000642.3:c.2039G>A MANE Select	NP_000633.2:p.Trp680Ter