Canonical Allele Identifier: CA9234576

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897298T>C , CM000681.2:g.12897298T>C	GRCh38
NC_000019.9:g.13008112T>C , CM000681.1:g.13008112T>C	GRCh37
NC_000019.8:g.12869112T>C	NCBI36
NG_009292.1:g.11139T>C
NG_033049.1:g.26975A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.957-5T>C MANE Select	NP_000150.1:n.957-5T>C
ENST00000222214.10:c.957-5T>C MANE Select	ENSP00000222214.4:n.957-5T>C
NM_000159.3:c.957-5T>C	NP_000150.1:n.957-5T>C
NM_013976.3:c.957-5T>C	NP_039663.1:n.957-5T>C
NM_013976.4:c.957-5T>C	NP_039663.1:n.957-5T>C
NM_013976.5:c.957-5T>C	NP_039663.1:n.957-5T>C
NR_102316.1:n.1120-5T>C
NR_102317.1:n.1338-5T>C
ENST00000222214.9:c.957-5T>C	ENSP00000222214.4:n.957-5T>C
ENST00000421816.6:n.935-5T>C
ENST00000585420.5:n.1287-5T>C
ENST00000590530.5:c.*397-5T>C	ENSP00000468452.1:n.*397-5T>C
ENST00000591043.1:n.993-5T>C
ENST00000591470.5:c.957-5T>C	ENSP00000466845.1:n.957-5T>C
XM_006722721.2:c.957-5T>C	XP_006722784.1:n.957-5T>C
XM_011527899.1:c.957-5T>C	XP_011526201.1:n.957-5T>C
XM_011527899.2:c.957-5T>C	XP_011526201.1:n.957-5T>C
XM_011527900.1:c.957-5T>C	XP_011526202.1:n.957-5T>C
XM_011527900.2:c.957-5T>C	XP_011526202.1:n.957-5T>C
XM_017026580.1:c.957-5T>C	XP_016882069.1:n.957-5T>C