Canonical Allele Identifier: CA419095627

Gene: AGL

Linked Data

• ClinVar Variation Id: 940781
• ClinVar RCV Id: RCV001210436
• dbSNP Id: rs1650116520
• gnomAD v4: 1-99862335-G-A
• MyVariant Identifiers: chr1:g.100327891G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99862335G>A , CM000663.2:g.99862335G>A	GRCh38
NC_000001.10:g.100327891G>A , CM000663.1:g.100327891G>A	GRCh37
NC_000001.9:g.100100479G>A	NCBI36
NG_012865.1:g.17252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.372G>A MANE Select	ENSP00000355106.3:p.Leu124=
ENST00000637337.1:n.583G>A
ENST00000294724.8:c.372G>A	ENSP00000294724.4:p.Leu124=
ENST00000361302.7:c.324G>A	ENSP00000354971.3:p.Leu108=
ENST00000361522.4:c.321G>A	ENSP00000354635.4:p.Leu107=
ENST00000361915.7:c.372G>A	ENSP00000355106.3:p.Leu124=
ENST00000370161.6:c.324G>A	ENSP00000359180.2:p.Leu108=
ENST00000370163.7:c.372G>A	ENSP00000359182.3:p.Leu124=
ENST00000370165.7:c.372G>A	ENSP00000359184.3:p.Leu124=
NM_000028.2:c.372G>A	NP_000019.2:p.Leu124=
NM_000642.2:c.372G>A	NP_000633.2:p.Leu124=
NM_000643.2:c.372G>A	NP_000634.2:p.Leu124=
NM_000644.2:c.372G>A	NP_000635.2:p.Leu124=
NM_000645.2:c.321G>A	NP_000636.2:p.Leu107=
NM_000646.2:c.324G>A	NP_000637.2:p.Leu108=
XM_005270557.1:c.372G>A	XP_005270614.1:p.Leu124=
XM_005270557.2:c.372G>A	XP_005270614.1:p.Leu124=
NM_000642.3:c.372G>A MANE Select	NP_000633.2:p.Leu124=