Canonical Allele Identifier: CA404317291

Gene: GCDH

Linked Data

• gnomAD v4: 19-12893491-T-G
• MyVariant Identifiers: chr19:g.13004305T>G (hg19) ; chr19:g.12893491T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893491T>G , CM000681.2:g.12893491T>G	GRCh38
NC_000019.9:g.13004305T>G , CM000681.1:g.13004305T>G	GRCh37
NC_000019.8:g.12865305T>G	NCBI36
NG_009292.1:g.7332T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.343T>G MANE Select	ENSP00000222214.4:p.Cys115Gly
ENST00000222214.9:c.343T>G	ENSP00000222214.4:p.Cys115Gly
ENST00000421816.6:n.321T>G
ENST00000585420.5:n.708T>G
ENST00000587072.1:c.391T>G	ENSP00000468584.1:p.Cys131Gly
ENST00000587832.5:n.400T>G
ENST00000588905.5:c.307T>G	ENSP00000465770.1:p.Cys103Gly
ENST00000589039.5:c.280T>G	ENSP00000465618.1:p.Cys94Gly
ENST00000590530.5:c.398T>G	ENSP00000468452.1:p.Leu133Arg
ENST00000590627.5:n.708T>G
ENST00000591043.1:n.379T>G
ENST00000591470.5:c.343T>G	ENSP00000466845.1:p.Cys115Gly
NM_000159.3:c.343T>G	NP_000150.1:p.Cys115Gly
NM_013976.3:c.343T>G	NP_039663.1:p.Cys115Gly
NR_102316.1:n.506T>G
NR_102317.1:n.759T>G
XM_006722721.2:c.343T>G	XP_006722784.1:p.Cys115Gly
XM_011527899.1:c.343T>G	XP_011526201.1:p.Cys115Gly
XM_011527900.1:c.343T>G	XP_011526202.1:p.Cys115Gly
XM_011527899.2:c.343T>G	XP_011526201.1:p.Cys115Gly
XM_011527900.2:c.343T>G	XP_011526202.1:p.Cys115Gly
XM_017026580.1:c.343T>G	XP_016882069.1:p.Cys115Gly
NM_000159.4:c.343T>G MANE Select	NP_000150.1:p.Cys115Gly
NM_013976.4:c.343T>G	NP_039663.1:p.Cys115Gly
NM_013976.5:c.343T>G	NP_039663.1:p.Cys115Gly