Canonical Allele Identifier: CA305500357

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1383061
• ClinVar RCV Id: RCV001890736
• dbSNP Id: rs1034155331
• gnomAD v4: 19-12893615-G-T
• MyVariant Identifiers: chr19:g.13004429G>T (hg19) ; chr19:g.12893615G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893615G>T , CM000681.2:g.12893615G>T	GRCh38
NC_000019.9:g.13004429G>T , CM000681.1:g.13004429G>T	GRCh37
NC_000019.8:g.12865429G>T	NCBI36
NG_009292.1:g.7456G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.467G>T MANE Select	ENSP00000222214.4:p.Gly156Val
ENST00000222214.9:c.467G>T	ENSP00000222214.4:p.Gly156Val
ENST00000421816.6:n.445G>T
ENST00000585420.5:n.832G>T
ENST00000587832.5:n.524G>T
ENST00000588905.5:c.431G>T	ENSP00000465770.1:p.Gly144Val
ENST00000589039.5:c.404G>T	ENSP00000465618.1:p.Gly135Val
ENST00000590530.5:c.522G>T	ENSP00000468452.1:p.Trp174Cys
ENST00000590627.5:n.832G>T
ENST00000591043.1:n.503G>T
ENST00000591470.5:c.467G>T	ENSP00000466845.1:p.Gly156Val
NM_000159.3:c.467G>T	NP_000150.1:p.Gly156Val
NM_013976.3:c.467G>T	NP_039663.1:p.Gly156Val
NR_102316.1:n.630G>T
NR_102317.1:n.883G>T
XM_006722721.2:c.467G>T	XP_006722784.1:p.Gly156Val
XM_011527899.1:c.467G>T	XP_011526201.1:p.Gly156Val
XM_011527900.1:c.467G>T	XP_011526202.1:p.Gly156Val
XM_011527899.2:c.467G>T	XP_011526201.1:p.Gly156Val
XM_011527900.2:c.467G>T	XP_011526202.1:p.Gly156Val
XM_017026580.1:c.467G>T	XP_016882069.1:p.Gly156Val
NM_000159.4:c.467G>T MANE Select	NP_000150.1:p.Gly156Val
NM_013976.4:c.467G>T	NP_039663.1:p.Gly156Val
NM_013976.5:c.467G>T	NP_039663.1:p.Gly156Val