Canonical Allele Identifier: CA274778
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 191375
ClinVar RCV Id: RCV000171558
dbSNP Id: rs786205862

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896244G>A , CM000681.2:g.12896244G>A GRCh38
NC_000019.9:g.13007058G>A , CM000681.1:g.13007058G>A GRCh37
NC_000019.8:g.12868058G>A NCBI36
NG_009292.1:g.10085G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.675G>A MANE Select ENSP00000222214.4:p.Trp225Ter
ENST00000222214.9:c.675G>A ENSP00000222214.4:p.Trp225Ter
ENST00000421816.6:n.653G>A
ENST00000585420.5:n.1005G>A
ENST00000590530.5:c.*115G>A ENSP00000468452.1:n.*115G>A
ENST00000591043.1:n.711G>A
ENST00000591470.5:c.675G>A ENSP00000466845.1:p.Trp225Ter
NM_000159.3:c.675G>A NP_000150.1:p.Trp225Ter
NM_013976.3:c.675G>A NP_039663.1:p.Trp225Ter
NR_102316.1:n.838G>A
NR_102317.1:n.1056G>A
XM_006722721.2:c.675G>A XP_006722784.1:p.Trp225Ter
XM_011527899.1:c.675G>A XP_011526201.1:p.Trp225Ter
XM_011527900.1:c.675G>A XP_011526202.1:p.Trp225Ter
XM_011527899.2:c.675G>A XP_011526201.1:p.Trp225Ter
XM_011527900.2:c.675G>A XP_011526202.1:p.Trp225Ter
XM_017026580.1:c.675G>A XP_016882069.1:p.Trp225Ter
NM_000159.4:c.675G>A MANE Select NP_000150.1:p.Trp225Ter
NM_013976.4:c.675G>A NP_039663.1:p.Trp225Ter
NM_013976.5:c.675G>A NP_039663.1:p.Trp225Ter