Canonical Allele Identifier: CA305500350

Gene: GCDH

Linked Data

• dbSNP Id: rs986804753
• gnomAD v2: 19-13004305-T-C
• gnomAD v4: 19-12893491-T-C
• MyVariant Identifiers: chr19:g.13004305T>C (hg19) ; chr19:g.12893491T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.343T>C MANE Select	ENSP00000222214.4:p.Cys115Arg
ENST00000222214.9:c.343T>C	ENSP00000222214.4:p.Cys115Arg
ENST00000421816.6:n.321T>C
ENST00000585420.5:n.708T>C
ENST00000587072.1:c.391T>C	ENSP00000468584.1:p.Cys131Arg
ENST00000587832.5:n.400T>C
ENST00000588905.5:c.307T>C	ENSP00000465770.1:p.Cys103Arg
ENST00000589039.5:c.280T>C	ENSP00000465618.1:p.Cys94Arg
ENST00000590530.5:c.398T>C	ENSP00000468452.1:p.Leu133Pro
ENST00000590627.5:n.708T>C
ENST00000591043.1:n.379T>C
ENST00000591470.5:c.343T>C	ENSP00000466845.1:p.Cys115Arg
NM_000159.3:c.343T>C	NP_000150.1:p.Cys115Arg
NM_013976.3:c.343T>C	NP_039663.1:p.Cys115Arg
NR_102316.1:n.506T>C
NR_102317.1:n.759T>C
XM_006722721.2:c.343T>C	XP_006722784.1:p.Cys115Arg
XM_011527899.1:c.343T>C	XP_011526201.1:p.Cys115Arg
XM_011527900.1:c.343T>C	XP_011526202.1:p.Cys115Arg
XM_011527899.2:c.343T>C	XP_011526201.1:p.Cys115Arg
XM_011527900.2:c.343T>C	XP_011526202.1:p.Cys115Arg
XM_017026580.1:c.343T>C	XP_016882069.1:p.Cys115Arg
NM_000159.4:c.343T>C MANE Select	NP_000150.1:p.Cys115Arg
NM_013976.4:c.343T>C	NP_039663.1:p.Cys115Arg
NM_013976.5:c.343T>C	NP_039663.1:p.Cys115Arg