Canonical Allele Identifier: CA404320190

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897391G>A , CM000681.2:g.12897391G>A	GRCh38
NC_000019.9:g.13008205G>A , CM000681.1:g.13008205G>A	GRCh37
NC_000019.8:g.12869205G>A	NCBI36
NG_009292.1:g.11232G>A
NG_033049.1:g.26882C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.1045G>A MANE Select	NP_000150.1:p.Ala349Thr
ENST00000222214.10:c.1045G>A MANE Select	ENSP00000222214.4:p.Ala349Thr
NM_000159.3:c.1045G>A	NP_000150.1:p.Ala349Thr
NM_013976.3:c.1045G>A	NP_039663.1:p.Ala349Thr
NM_013976.4:c.1045G>A	NP_039663.1:p.Ala349Thr
NM_013976.5:c.1045G>A	NP_039663.1:p.Ala349Thr
NR_102316.1:n.1208G>A
NR_102317.1:n.1426G>A
ENST00000222214.9:c.1045G>A	ENSP00000222214.4:p.Ala349Thr
ENST00000421816.6:n.1023G>A
ENST00000585420.5:n.1375G>A
ENST00000590472.5:c.89G>A
ENST00000590530.5:c.*485G>A	ENSP00000468452.1:n.*485G>A
ENST00000591043.1:n.1081G>A
ENST00000591050.1:c.12G>A
ENST00000591470.5:c.1045G>A	ENSP00000466845.1:p.Ala349Thr
XM_006722721.2:c.1045G>A	XP_006722784.1:p.Ala349Thr
XM_011527899.1:c.1045G>A	XP_011526201.1:p.Ala349Thr
XM_011527899.2:c.1045G>A	XP_011526201.1:p.Ala349Thr
XM_011527900.1:c.1045G>A	XP_011526202.1:p.Ala349Thr
XM_011527900.2:c.1045G>A	XP_011526202.1:p.Ala349Thr
XM_017026580.1:c.1045G>A	XP_016882069.1:p.Ala349Thr