Canonical Allele Identifier: CA404319898

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897334C>T , CM000681.2:g.12897334C>T	GRCh38
NC_000019.9:g.13008148C>T , CM000681.1:g.13008148C>T	GRCh37
NC_000019.8:g.12869148C>T	NCBI36
NG_009292.1:g.11175C>T
NG_033049.1:g.26939G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.988C>T MANE Select	NP_000150.1:p.Gln330Ter
ENST00000222214.10:c.988C>T MANE Select	ENSP00000222214.4:p.Gln330Ter
NM_000159.3:c.988C>T	NP_000150.1:p.Gln330Ter
NM_013976.3:c.988C>T	NP_039663.1:p.Gln330Ter
NM_013976.4:c.988C>T	NP_039663.1:p.Gln330Ter
NM_013976.5:c.988C>T	NP_039663.1:p.Gln330Ter
NR_102316.1:n.1151C>T
NR_102317.1:n.1369C>T
ENST00000222214.9:c.988C>T	ENSP00000222214.4:p.Gln330Ter
ENST00000421816.6:n.966C>T
ENST00000585420.5:n.1318C>T
ENST00000590472.5:c.32C>T
ENST00000590530.5:c.*428C>T	ENSP00000468452.1:n.*428C>T
ENST00000591043.1:n.1024C>T
ENST00000591470.5:c.988C>T	ENSP00000466845.1:p.Gln330Ter
XM_006722721.2:c.988C>T	XP_006722784.1:p.Gln330Ter
XM_011527899.1:c.988C>T	XP_011526201.1:p.Gln330Ter
XM_011527899.2:c.988C>T	XP_011526201.1:p.Gln330Ter
XM_011527900.1:c.988C>T	XP_011526202.1:p.Gln330Ter
XM_011527900.2:c.988C>T	XP_011526202.1:p.Gln330Ter
XM_017026580.1:c.988C>T	XP_016882069.1:p.Gln330Ter