Canonical Allele Identifier: CA404315510
Community Standard Title: NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891960C>G , CM000681.2:g.12891960C>G GRCh38
NC_000019.9:g.13002774C>G , CM000681.1:g.13002774C>G GRCh37
NC_000019.8:g.12863774C>G NCBI36
NG_009292.1:g.5801C>G
NG_013087.1:g.244G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.257C>G MANE Select NP_000150.1:p.Ala86Gly
ENST00000222214.10:c.257C>G MANE Select ENSP00000222214.4:p.Ala86Gly
NM_000159.3:c.257C>G NP_000150.1:p.Ala86Gly
NM_013976.3:c.257C>G NP_039663.1:p.Ala86Gly
NM_013976.4:c.257C>G NP_039663.1:p.Ala86Gly
NM_013976.5:c.257C>G NP_039663.1:p.Ala86Gly
NR_102316.1:n.365C>G
NR_102317.1:n.673C>G
ENST00000222214.9:c.257C>G ENSP00000222214.4:p.Ala86Gly
ENST00000421816.6:n.298C>G
ENST00000585420.5:n.622C>G
ENST00000585760.5:n.293C>G
ENST00000587072.1:c.257C>G ENSP00000468584.1:p.Ala86Gly
ENST00000587832.5:n.314C>G
ENST00000588905.5:c.221C>G ENSP00000465770.1:p.Ala74Gly
ENST00000589039.5:c.257C>G ENSP00000465618.1:p.Ala86Gly
ENST00000590445.5:c.*134C>G ENSP00000468125.1:n.*134C>G
ENST00000590530.5:c.257C>G ENSP00000468452.1:p.Ala86Gly
ENST00000590627.5:n.622C>G
ENST00000591043.1:n.293C>G
ENST00000591470.5:c.257C>G ENSP00000466845.1:p.Ala86Gly
XM_006722721.2:c.257C>G XP_006722784.1:p.Ala86Gly
XM_011527899.1:c.257C>G XP_011526201.1:p.Ala86Gly
XM_011527899.2:c.257C>G XP_011526201.1:p.Ala86Gly
XM_011527900.1:c.257C>G XP_011526202.1:p.Ala86Gly
XM_011527900.2:c.257C>G XP_011526202.1:p.Ala86Gly
XM_017026580.1:c.257C>G XP_016882069.1:p.Ala86Gly