Canonical Allele Identifier: CA404317313

Gene: GCDH

Linked Data

• gnomAD v4: 19-12893498-G-C
• MyVariant Identifiers: chr19:g.13004312G>C (hg19) ; chr19:g.12893498G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893498G>C , CM000681.2:g.12893498G>C	GRCh38
NC_000019.9:g.13004312G>C , CM000681.1:g.13004312G>C	GRCh37
NC_000019.8:g.12865312G>C	NCBI36
NG_009292.1:g.7339G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.350G>C MANE Select	ENSP00000222214.4:p.Gly117Ala
ENST00000222214.9:c.350G>C	ENSP00000222214.4:p.Gly117Ala
ENST00000421816.6:n.328G>C
ENST00000585420.5:n.715G>C
ENST00000587832.5:n.407G>C
ENST00000588905.5:c.314G>C	ENSP00000465770.1:p.Gly105Ala
ENST00000589039.5:c.287G>C	ENSP00000465618.1:p.Gly96Ala
ENST00000590530.5:c.405G>C	ENSP00000468452.1:p.Trp135Cys
ENST00000590627.5:n.715G>C
ENST00000591043.1:n.386G>C
ENST00000591470.5:c.350G>C	ENSP00000466845.1:p.Gly117Ala
NM_000159.3:c.350G>C	NP_000150.1:p.Gly117Ala
NM_013976.3:c.350G>C	NP_039663.1:p.Gly117Ala
NR_102316.1:n.513G>C
NR_102317.1:n.766G>C
XM_006722721.2:c.350G>C	XP_006722784.1:p.Gly117Ala
XM_011527899.1:c.350G>C	XP_011526201.1:p.Gly117Ala
XM_011527900.1:c.350G>C	XP_011526202.1:p.Gly117Ala
XM_011527899.2:c.350G>C	XP_011526201.1:p.Gly117Ala
XM_011527900.2:c.350G>C	XP_011526202.1:p.Gly117Ala
XM_017026580.1:c.350G>C	XP_016882069.1:p.Gly117Ala
NM_000159.4:c.350G>C MANE Select	NP_000150.1:p.Gly117Ala
NM_013976.4:c.350G>C	NP_039663.1:p.Gly117Ala
NM_013976.5:c.350G>C	NP_039663.1:p.Gly117Ala