Canonical Allele Identifier: CA404321778
Community Standard Title: NM_000159.4(GCDH):c.1205G>C (p.Arg402Pro)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897825G>C , CM000681.2:g.12897825G>C GRCh38
NC_000019.9:g.13008639G>C , CM000681.1:g.13008639G>C GRCh37
NC_000019.8:g.12869639G>C NCBI36
NG_009292.1:g.11666G>C
NG_033049.1:g.26448C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.1205G>C MANE Select NP_000150.1:p.Arg402Pro
ENST00000222214.10:c.1205G>C MANE Select ENSP00000222214.4:p.Arg402Pro
NM_000159.3:c.1205G>C NP_000150.1:p.Arg402Pro
NM_013976.3:c.1205G>C NP_039663.1:p.Arg402Pro
NM_013976.4:c.1205G>C NP_039663.1:p.Arg402Pro
NM_013976.5:c.1205G>C NP_039663.1:p.Arg402Pro
NR_102316.1:n.1368G>C
NR_102317.1:n.1586G>C
ENST00000222214.9:c.1205G>C ENSP00000222214.4:p.Arg402Pro
ENST00000585420.5:n.1535G>C
ENST00000590472.5:c.249G>C
ENST00000590530.5:c.*645G>C ENSP00000468452.1:n.*645G>C
ENST00000591043.1:n.1515G>C
ENST00000591050.1:c.172G>C
ENST00000591470.5:c.1205G>C ENSP00000466845.1:p.Arg402Pro
XM_006722721.2:c.1205G>C XP_006722784.1:p.Arg402Pro
XM_011527899.1:c.1205G>C XP_011526201.1:p.Arg402Pro
XM_011527899.2:c.1205G>C XP_011526201.1:p.Arg402Pro
XM_011527900.1:c.1205G>C XP_011526202.1:p.Arg402Pro
XM_011527900.2:c.1205G>C XP_011526202.1:p.Arg402Pro
XM_017026580.1:c.1205G>C XP_016882069.1:p.Arg402Pro