Canonical Allele Identifier: CA404321719
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 459948
ClinVar RCV Id: RCV000539888
dbSNP Id: rs1555751336

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897809G>A , CM000681.2:g.12897809G>A GRCh38
NC_000019.9:g.13008623G>A , CM000681.1:g.13008623G>A GRCh37
NC_000019.8:g.12869623G>A NCBI36
NG_009292.1:g.11650G>A
NG_033049.1:g.26464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.1189G>A MANE Select ENSP00000222214.4:p.Glu397Lys
ENST00000222214.9:c.1189G>A ENSP00000222214.4:p.Glu397Lys
ENST00000585420.5:n.1519G>A
ENST00000590472.5:c.233G>A
ENST00000590530.5:c.*629G>A ENSP00000468452.1:n.*629G>A
ENST00000591043.1:n.1499G>A
ENST00000591050.1:c.156G>A
ENST00000591470.5:c.1189G>A ENSP00000466845.1:p.Glu397Lys
NM_000159.3:c.1189G>A NP_000150.1:p.Glu397Lys
NM_013976.3:c.1189G>A NP_039663.1:p.Glu397Lys
NR_102316.1:n.1352G>A
NR_102317.1:n.1570G>A
XM_006722721.2:c.1189G>A XP_006722784.1:p.Glu397Lys
XM_011527899.1:c.1189G>A XP_011526201.1:p.Glu397Lys
XM_011527900.1:c.1189G>A XP_011526202.1:p.Glu397Lys
XM_011527899.2:c.1189G>A XP_011526201.1:p.Glu397Lys
XM_011527900.2:c.1189G>A XP_011526202.1:p.Glu397Lys
XM_017026580.1:c.1189G>A XP_016882069.1:p.Glu397Lys
NM_000159.4:c.1189G>A MANE Select NP_000150.1:p.Glu397Lys
NM_013976.4:c.1189G>A NP_039663.1:p.Glu397Lys
NM_013976.5:c.1189G>A NP_039663.1:p.Glu397Lys