Canonical Allele Identifier: CA404317293

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13004306G>T (hg19) ; chr19:g.12893492G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893492G>T , CM000681.2:g.12893492G>T	GRCh38
NC_000019.9:g.13004306G>T , CM000681.1:g.13004306G>T	GRCh37
NC_000019.8:g.12865306G>T	NCBI36
NG_009292.1:g.7333G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.344G>T MANE Select	ENSP00000222214.4:p.Cys115Phe
ENST00000222214.9:c.344G>T	ENSP00000222214.4:p.Cys115Phe
ENST00000421816.6:n.322G>T
ENST00000585420.5:n.709G>T
ENST00000587072.1:c.392G>T	ENSP00000468584.1:p.Cys131Phe
ENST00000587832.5:n.401G>T
ENST00000588905.5:c.308G>T	ENSP00000465770.1:p.Cys103Phe
ENST00000589039.5:c.281G>T	ENSP00000465618.1:p.Cys94Phe
ENST00000590530.5:c.399G>T	ENSP00000468452.1:p.Leu133=
ENST00000590627.5:n.709G>T
ENST00000591043.1:n.380G>T
ENST00000591470.5:c.344G>T	ENSP00000466845.1:p.Cys115Phe
NM_000159.3:c.344G>T	NP_000150.1:p.Cys115Phe
NM_013976.3:c.344G>T	NP_039663.1:p.Cys115Phe
NR_102316.1:n.507G>T
NR_102317.1:n.760G>T
XM_006722721.2:c.344G>T	XP_006722784.1:p.Cys115Phe
XM_011527899.1:c.344G>T	XP_011526201.1:p.Cys115Phe
XM_011527900.1:c.344G>T	XP_011526202.1:p.Cys115Phe
XM_011527899.2:c.344G>T	XP_011526201.1:p.Cys115Phe
XM_011527900.2:c.344G>T	XP_011526202.1:p.Cys115Phe
XM_017026580.1:c.344G>T	XP_016882069.1:p.Cys115Phe
NM_000159.4:c.344G>T MANE Select	NP_000150.1:p.Cys115Phe
NM_013976.4:c.344G>T	NP_039663.1:p.Cys115Phe
NM_013976.5:c.344G>T	NP_039663.1:p.Cys115Phe