Canonical Allele Identifier: CA404314451

Gene: GCDH

Linked Data

• ClinVar Variation Id: 654494
• ClinVar RCV Id: RCV000810467
• dbSNP Id: rs1599606857
• MyVariant Identifiers: chr19:g.13002325A>C (hg19) ; chr19:g.12891511A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891511A>C , CM000681.2:g.12891511A>C	GRCh38
NC_000019.9:g.13002325A>C , CM000681.1:g.13002325A>C	GRCh37
NC_000019.8:g.12863325A>C	NCBI36
NG_009292.1:g.5352A>C
NG_013087.1:g.693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.116A>C MANE Select	ENSP00000222214.4:p.Gln39Pro
ENST00000222214.9:c.116A>C	ENSP00000222214.4:p.Gln39Pro
ENST00000421816.6:n.168+116A>C
ENST00000585420.5:n.173A>C
ENST00000585760.5:n.152A>C
ENST00000587072.1:c.116A>C	ENSP00000468584.1:p.Gln39Pro
ENST00000587832.5:n.173A>C
ENST00000588905.5:c.91+116A>C	ENSP00000465770.1:n.91+116A>C
ENST00000589039.5:c.116A>C	ENSP00000465618.1:p.Gln39Pro
ENST00000590445.5:c.116A>C	ENSP00000468125.1:p.Gln39Pro
ENST00000590530.5:c.116A>C	ENSP00000468452.1:p.Gln39Pro
ENST00000590627.5:n.173A>C
ENST00000591043.1:n.152A>C
ENST00000591470.5:c.116A>C	ENSP00000466845.1:p.Gln39Pro
NM_000159.3:c.116A>C	NP_000150.1:p.Gln39Pro
NM_013976.3:c.116A>C	NP_039663.1:p.Gln39Pro
NR_102316.1:n.224A>C
NR_102317.1:n.224A>C
XM_006722721.2:c.116A>C	XP_006722784.1:p.Gln39Pro
XM_011527899.1:c.116A>C	XP_011526201.1:p.Gln39Pro
XM_011527900.1:c.116A>C	XP_011526202.1:p.Gln39Pro
XM_011527899.2:c.116A>C	XP_011526201.1:p.Gln39Pro
XM_011527900.2:c.116A>C	XP_011526202.1:p.Gln39Pro
XM_017026580.1:c.116A>C	XP_016882069.1:p.Gln39Pro
NM_000159.4:c.116A>C MANE Select	NP_000150.1:p.Gln39Pro
NM_013976.4:c.116A>C	NP_039663.1:p.Gln39Pro
NM_013976.5:c.116A>C	NP_039663.1:p.Gln39Pro