Canonical Allele Identifier: CA9234383
Community Standard Title: NM_000159.4(GCDH):c.398T>G (p.Val133Gly)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893546T>G , CM000681.2:g.12893546T>G GRCh38
NC_000019.9:g.13004360T>G , CM000681.1:g.13004360T>G GRCh37
NC_000019.8:g.12865360T>G NCBI36
NG_009292.1:g.7387T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.398T>G MANE Select NP_000150.1:p.Val133Gly
ENST00000222214.10:c.398T>G MANE Select ENSP00000222214.4:p.Val133Gly
NM_000159.3:c.398T>G NP_000150.1:p.Val133Gly
NM_013976.3:c.398T>G NP_039663.1:p.Val133Gly
NM_013976.4:c.398T>G NP_039663.1:p.Val133Gly
NM_013976.5:c.398T>G NP_039663.1:p.Val133Gly
NR_102316.1:n.561T>G
NR_102317.1:n.814T>G
ENST00000222214.9:c.398T>G ENSP00000222214.4:p.Val133Gly
ENST00000421816.6:n.376T>G
ENST00000585420.5:n.763T>G
ENST00000587832.5:n.455T>G
ENST00000588905.5:c.362T>G ENSP00000465770.1:p.Val121Gly
ENST00000589039.5:c.335T>G ENSP00000465618.1:p.Val112Gly
ENST00000590530.5:c.453T>G ENSP00000468452.1:p.Gly151=
ENST00000590627.5:n.763T>G
ENST00000591043.1:n.434T>G
ENST00000591470.5:c.398T>G ENSP00000466845.1:p.Val133Gly
XM_006722721.2:c.398T>G XP_006722784.1:p.Val133Gly
XM_011527899.1:c.398T>G XP_011526201.1:p.Val133Gly
XM_011527899.2:c.398T>G XP_011526201.1:p.Val133Gly
XM_011527900.1:c.398T>G XP_011526202.1:p.Val133Gly
XM_011527900.2:c.398T>G XP_011526202.1:p.Val133Gly
XM_017026580.1:c.398T>G XP_016882069.1:p.Val133Gly