Canonical Allele Identifier: CA404318610
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 1404269
dbSNP Id: rs1970675873

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896252G>T , CM000681.2:g.12896252G>T GRCh38
NC_000019.9:g.13007066G>T , CM000681.1:g.13007066G>T GRCh37
NC_000019.8:g.12868066G>T NCBI36
NG_009292.1:g.10093G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.683G>T MANE Select ENSP00000222214.4:p.Cys228Phe
ENST00000222214.9:c.683G>T ENSP00000222214.4:p.Cys228Phe
ENST00000421816.6:n.661G>T
ENST00000585420.5:n.1013G>T
ENST00000590530.5:c.*123G>T ENSP00000468452.1:n.*123G>T
ENST00000591043.1:n.719G>T
ENST00000591470.5:c.683G>T ENSP00000466845.1:p.Cys228Phe
NM_000159.3:c.683G>T NP_000150.1:p.Cys228Phe
NM_013976.3:c.683G>T NP_039663.1:p.Cys228Phe
NR_102316.1:n.846G>T
NR_102317.1:n.1064G>T
XM_006722721.2:c.683G>T XP_006722784.1:p.Cys228Phe
XM_011527899.1:c.683G>T XP_011526201.1:p.Cys228Phe
XM_011527900.1:c.683G>T XP_011526202.1:p.Cys228Phe
XM_011527899.2:c.683G>T XP_011526201.1:p.Cys228Phe
XM_011527900.2:c.683G>T XP_011526202.1:p.Cys228Phe
XM_017026580.1:c.683G>T XP_016882069.1:p.Cys228Phe
NM_000159.4:c.683G>T MANE Select NP_000150.1:p.Cys228Phe
NM_013976.4:c.683G>T NP_039663.1:p.Cys228Phe
NM_013976.5:c.683G>T NP_039663.1:p.Cys228Phe