Canonical Allele Identifier: CA404317524

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893574T>A , CM000681.2:g.12893574T>A	GRCh38
NC_000019.9:g.13004388T>A , CM000681.1:g.13004388T>A	GRCh37
NC_000019.8:g.12865388T>A	NCBI36
NG_009292.1:g.7415T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.426T>A MANE Select	NP_000150.1:p.Ser142Arg
ENST00000222214.10:c.426T>A MANE Select	ENSP00000222214.4:p.Ser142Arg
NM_000159.3:c.426T>A	NP_000150.1:p.Ser142Arg
NM_013976.3:c.426T>A	NP_039663.1:p.Ser142Arg
NM_013976.4:c.426T>A	NP_039663.1:p.Ser142Arg
NM_013976.5:c.426T>A	NP_039663.1:p.Ser142Arg
NR_102316.1:n.589T>A
NR_102317.1:n.842T>A
ENST00000222214.9:c.426T>A	ENSP00000222214.4:p.Ser142Arg
ENST00000421816.6:n.404T>A
ENST00000585420.5:n.791T>A
ENST00000587832.5:n.483T>A
ENST00000588905.5:c.390T>A	ENSP00000465770.1:p.Ser130Arg
ENST00000589039.5:c.363T>A	ENSP00000465618.1:p.Ser121Arg
ENST00000590530.5:c.481T>A	ENSP00000468452.1:p.Cys161Ser
ENST00000590627.5:n.791T>A
ENST00000591043.1:n.462T>A
ENST00000591470.5:c.426T>A	ENSP00000466845.1:p.Ser142Arg
XM_006722721.2:c.426T>A	XP_006722784.1:p.Ser142Arg
XM_011527899.1:c.426T>A	XP_011526201.1:p.Ser142Arg
XM_011527899.2:c.426T>A	XP_011526201.1:p.Ser142Arg
XM_011527900.1:c.426T>A	XP_011526202.1:p.Ser142Arg
XM_011527900.2:c.426T>A	XP_011526202.1:p.Ser142Arg
XM_017026580.1:c.426T>A	XP_016882069.1:p.Ser142Arg