Canonical Allele Identifier: CA505644189

Gene: GCDH

Linked Data

• gnomAD v4: 19-12893490-C-A
• MyVariant Identifiers: chr19:g.13004304C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893490C>A , CM000681.2:g.12893490C>A	GRCh38
NC_000019.9:g.13004304C>A , CM000681.1:g.13004304C>A	GRCh37
NC_000019.8:g.12865304C>A	NCBI36
NG_009292.1:g.7331C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.342C>A MANE Select	ENSP00000222214.4:p.Gly114=
ENST00000222214.9:c.342C>A	ENSP00000222214.4:p.Gly114=
ENST00000421816.6:n.320C>A
ENST00000585420.5:n.707C>A
ENST00000587072.1:c.390C>A	ENSP00000468584.1:p.Gly130=
ENST00000587832.5:n.399C>A
ENST00000588905.5:c.306C>A	ENSP00000465770.1:p.Gly102=
ENST00000589039.5:c.279C>A	ENSP00000465618.1:p.Gly93=
ENST00000590530.5:c.397C>A	ENSP00000468452.1:p.Leu133Met
ENST00000590627.5:n.707C>A
ENST00000591043.1:n.378C>A
ENST00000591470.5:c.342C>A	ENSP00000466845.1:p.Gly114=
NM_000159.3:c.342C>A	NP_000150.1:p.Gly114=
NM_013976.3:c.342C>A	NP_039663.1:p.Gly114=
NR_102316.1:n.505C>A
NR_102317.1:n.758C>A
XM_006722721.2:c.342C>A	XP_006722784.1:p.Gly114=
XM_011527899.1:c.342C>A	XP_011526201.1:p.Gly114=
XM_011527900.1:c.342C>A	XP_011526202.1:p.Gly114=
XM_011527899.2:c.342C>A	XP_011526201.1:p.Gly114=
XM_011527900.2:c.342C>A	XP_011526202.1:p.Gly114=
XM_017026580.1:c.342C>A	XP_016882069.1:p.Gly114=
NM_000159.4:c.342C>A MANE Select	NP_000150.1:p.Gly114=
NM_013976.4:c.342C>A	NP_039663.1:p.Gly114=
NM_013976.5:c.342C>A	NP_039663.1:p.Gly114=