Canonical Allele Identifier: CA404317304

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13004309C>T (hg19) ; chr19:g.12893495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893495C>T , CM000681.2:g.12893495C>T	GRCh38
NC_000019.9:g.13004309C>T , CM000681.1:g.13004309C>T	GRCh37
NC_000019.8:g.12865309C>T	NCBI36
NG_009292.1:g.7336C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.347C>T MANE Select	ENSP00000222214.4:p.Ala116Val
ENST00000222214.9:c.347C>T	ENSP00000222214.4:p.Ala116Val
ENST00000421816.6:n.325C>T
ENST00000585420.5:n.712C>T
ENST00000587832.5:n.404C>T
ENST00000588905.5:c.311C>T	ENSP00000465770.1:p.Ala104Val
ENST00000589039.5:c.284C>T	ENSP00000465618.1:p.Ala95Val
ENST00000590530.5:c.402C>T	ENSP00000468452.1:p.Cys134=
ENST00000590627.5:n.712C>T
ENST00000591043.1:n.383C>T
ENST00000591470.5:c.347C>T	ENSP00000466845.1:p.Ala116Val
NM_000159.3:c.347C>T	NP_000150.1:p.Ala116Val
NM_013976.3:c.347C>T	NP_039663.1:p.Ala116Val
NR_102316.1:n.510C>T
NR_102317.1:n.763C>T
XM_006722721.2:c.347C>T	XP_006722784.1:p.Ala116Val
XM_011527899.1:c.347C>T	XP_011526201.1:p.Ala116Val
XM_011527900.1:c.347C>T	XP_011526202.1:p.Ala116Val
XM_011527899.2:c.347C>T	XP_011526201.1:p.Ala116Val
XM_011527900.2:c.347C>T	XP_011526202.1:p.Ala116Val
XM_017026580.1:c.347C>T	XP_016882069.1:p.Ala116Val
NM_000159.4:c.347C>T MANE Select	NP_000150.1:p.Ala116Val
NM_013976.4:c.347C>T	NP_039663.1:p.Ala116Val
NM_013976.5:c.347C>T	NP_039663.1:p.Ala116Val