Canonical Allele Identifier: CA404317438

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893537T>C , CM000681.2:g.12893537T>C	GRCh38
NC_000019.9:g.13004351T>C , CM000681.1:g.13004351T>C	GRCh37
NC_000019.8:g.12865351T>C	NCBI36
NG_009292.1:g.7378T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.389T>C MANE Select	NP_000150.1:p.Leu130Pro
ENST00000222214.10:c.389T>C MANE Select	ENSP00000222214.4:p.Leu130Pro
NM_000159.3:c.389T>C	NP_000150.1:p.Leu130Pro
NM_013976.3:c.389T>C	NP_039663.1:p.Leu130Pro
NM_013976.4:c.389T>C	NP_039663.1:p.Leu130Pro
NM_013976.5:c.389T>C	NP_039663.1:p.Leu130Pro
NR_102316.1:n.552T>C
NR_102317.1:n.805T>C
ENST00000222214.9:c.389T>C	ENSP00000222214.4:p.Leu130Pro
ENST00000421816.6:n.367T>C
ENST00000585420.5:n.754T>C
ENST00000587832.5:n.446T>C
ENST00000588905.5:c.353T>C	ENSP00000465770.1:p.Leu118Pro
ENST00000589039.5:c.326T>C	ENSP00000465618.1:p.Leu109Pro
ENST00000590530.5:c.444T>C	ENSP00000468452.1:p.Ala148=
ENST00000590627.5:n.754T>C
ENST00000591043.1:n.425T>C
ENST00000591470.5:c.389T>C	ENSP00000466845.1:p.Leu130Pro
XM_006722721.2:c.389T>C	XP_006722784.1:p.Leu130Pro
XM_011527899.1:c.389T>C	XP_011526201.1:p.Leu130Pro
XM_011527899.2:c.389T>C	XP_011526201.1:p.Leu130Pro
XM_011527900.1:c.389T>C	XP_011526202.1:p.Leu130Pro
XM_011527900.2:c.389T>C	XP_011526202.1:p.Leu130Pro
XM_017026580.1:c.389T>C	XP_016882069.1:p.Leu130Pro