Canonical Allele Identifier: CA404320414

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897430T>C , CM000681.2:g.12897430T>C	GRCh38
NC_000019.9:g.13008244T>C , CM000681.1:g.13008244T>C	GRCh37
NC_000019.8:g.12869244T>C	NCBI36
NG_009292.1:g.11271T>C
NG_033049.1:g.26843A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.1082+2T>C MANE Select	NP_000150.1:n.1082+2T>C
ENST00000222214.10:c.1082+2T>C MANE Select	ENSP00000222214.4:n.1082+2T>C
NM_000159.3:c.1082+2T>C	NP_000150.1:n.1082+2T>C
NM_013976.3:c.1082+2T>C	NP_039663.1:n.1082+2T>C
NM_013976.4:c.1082+2T>C	NP_039663.1:n.1082+2T>C
NM_013976.5:c.1082+2T>C	NP_039663.1:n.1082+2T>C
NR_102316.1:n.1245+2T>C
NR_102317.1:n.1463+2T>C
ENST00000222214.9:c.1082+2T>C	ENSP00000222214.4:n.1082+2T>C
ENST00000421816.6:n.1062T>C
ENST00000585420.5:n.1412+2T>C
ENST00000590472.5:c.126+2T>C
ENST00000590530.5:c.*522+2T>C	ENSP00000468452.1:n.*522+2T>C
ENST00000591043.1:n.1120T>C
ENST00000591050.1:c.49+2T>C
ENST00000591470.5:c.1082+2T>C	ENSP00000466845.1:n.1082+2T>C
XM_006722721.2:c.1082+2T>C	XP_006722784.1:n.1082+2T>C
XM_011527899.1:c.1082+2T>C	XP_011526201.1:n.1082+2T>C
XM_011527899.2:c.1082+2T>C	XP_011526201.1:n.1082+2T>C
XM_011527900.1:c.1082+2T>C	XP_011526202.1:n.1082+2T>C
XM_011527900.2:c.1082+2T>C	XP_011526202.1:n.1082+2T>C
XM_017026580.1:c.1082+2T>C	XP_016882069.1:n.1082+2T>C