Canonical Allele Identifier: CA404317526

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12893575G>C , CM000681.2:g.12893575G>C	GRCh38
NC_000019.9:g.13004389G>C , CM000681.1:g.13004389G>C	GRCh37
NC_000019.8:g.12865389G>C	NCBI36
NG_009292.1:g.7416G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.427G>C MANE Select	NP_000150.1:p.Val143Leu
ENST00000222214.10:c.427G>C MANE Select	ENSP00000222214.4:p.Val143Leu
NM_000159.3:c.427G>C	NP_000150.1:p.Val143Leu
NM_013976.3:c.427G>C	NP_039663.1:p.Val143Leu
NM_013976.4:c.427G>C	NP_039663.1:p.Val143Leu
NM_013976.5:c.427G>C	NP_039663.1:p.Val143Leu
NR_102316.1:n.590G>C
NR_102317.1:n.843G>C
ENST00000222214.9:c.427G>C	ENSP00000222214.4:p.Val143Leu
ENST00000421816.6:n.405G>C
ENST00000585420.5:n.792G>C
ENST00000587832.5:n.484G>C
ENST00000588905.5:c.391G>C	ENSP00000465770.1:p.Val131Leu
ENST00000589039.5:c.364G>C	ENSP00000465618.1:p.Val122Leu
ENST00000590530.5:c.482G>C	ENSP00000468452.1:p.Cys161Ser
ENST00000590627.5:n.792G>C
ENST00000591043.1:n.463G>C
ENST00000591470.5:c.427G>C	ENSP00000466845.1:p.Val143Leu
XM_006722721.2:c.427G>C	XP_006722784.1:p.Val143Leu
XM_011527899.1:c.427G>C	XP_011526201.1:p.Val143Leu
XM_011527899.2:c.427G>C	XP_011526201.1:p.Val143Leu
XM_011527900.1:c.427G>C	XP_011526202.1:p.Val143Leu
XM_011527900.2:c.427G>C	XP_011526202.1:p.Val143Leu
XM_017026580.1:c.427G>C	XP_016882069.1:p.Val143Leu