Canonical Allele Identifier: CA274339
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 189066
dbSNP Id: rs776082304

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897859C>A , CM000681.2:g.12897859C>A GRCh38
NC_000019.9:g.13008673C>A , CM000681.1:g.13008673C>A GRCh37
NC_000019.8:g.12869673C>A NCBI36
NG_009292.1:g.11700C>A
NG_033049.1:g.26414G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1239C>A MANE Select ENSP00000222214.4:p.Tyr413Ter
ENST00000222214.9:c.1239C>A ENSP00000222214.4:p.Tyr413Ter
ENST00000585420.5:n.1569C>A
ENST00000590472.5:c.283C>A
ENST00000590530.5:c.*679C>A ENSP00000468452.1:n.*679C>A
ENST00000591043.1:n.1549C>A
ENST00000591050.1:c.206C>A
ENST00000591470.5:c.1239C>A ENSP00000466845.1:p.Tyr413Ter
NM_000159.3:c.1239C>A NP_000150.1:p.Tyr413Ter
NM_013976.3:c.1239C>A NP_039663.1:p.Tyr413Ter
NR_102316.1:n.1402C>A
NR_102317.1:n.1620C>A
XM_006722721.2:c.1239C>A XP_006722784.1:p.Tyr413Ter
XM_011527899.1:c.1239C>A XP_011526201.1:p.Tyr413Ter
XM_011527900.1:c.1239C>A XP_011526202.1:p.Tyr413Ter
XM_011527899.2:c.1239C>A XP_011526201.1:p.Tyr413Ter
XM_011527900.2:c.1239C>A XP_011526202.1:p.Tyr413Ter
XM_017026580.1:c.1239C>A XP_016882069.1:p.Tyr413Ter
NM_000159.4:c.1239C>A MANE Select NP_000150.1:p.Tyr413Ter
NM_013976.4:c.1239C>A NP_039663.1:p.Tyr413Ter
NM_013976.5:c.1239C>A NP_039663.1:p.Tyr413Ter