Canonical Allele Identifier: CA505648147

Gene: GCDH

Linked Data

• dbSNP Id: rs1297986923
• gnomAD v2: 19-13006816-G-A
• gnomAD v4: 19-12896002-G-A
• MyVariant Identifiers: chr19:g.13006816G>A (hg19) ; chr19:g.12896002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896002G>A , CM000681.2:g.12896002G>A	GRCh38
NC_000019.9:g.13006816G>A , CM000681.1:g.13006816G>A	GRCh37
NC_000019.8:g.12867816G>A	NCBI36
NG_009292.1:g.9843G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.516G>A MANE Select	ENSP00000222214.4:p.Glu172=
ENST00000222214.9:c.516G>A	ENSP00000222214.4:p.Glu172=
ENST00000421816.6:n.494G>A
ENST00000585420.5:n.881G>A
ENST00000588905.5:c.480G>A	ENSP00000465770.1:p.Glu160=
ENST00000590530.5:c.571G>A	ENSP00000468452.1:p.Ala191Thr
ENST00000591043.1:n.552G>A
ENST00000591470.5:c.516G>A	ENSP00000466845.1:p.Glu172=
NM_000159.3:c.516G>A	NP_000150.1:p.Glu172=
NM_013976.3:c.516G>A	NP_039663.1:p.Glu172=
NR_102316.1:n.679G>A
NR_102317.1:n.932G>A
XM_006722721.2:c.516G>A	XP_006722784.1:p.Glu172=
XM_011527899.1:c.516G>A	XP_011526201.1:p.Glu172=
XM_011527900.1:c.516G>A	XP_011526202.1:p.Glu172=
XM_011527899.2:c.516G>A	XP_011526201.1:p.Glu172=
XM_011527900.2:c.516G>A	XP_011526202.1:p.Glu172=
XM_017026580.1:c.516G>A	XP_016882069.1:p.Glu172=
NM_000159.4:c.516G>A MANE Select	NP_000150.1:p.Glu172=
NM_013976.4:c.516G>A	NP_039663.1:p.Glu172=
NM_013976.5:c.516G>A	NP_039663.1:p.Glu172=