Canonical Allele Identifier: CA9234477
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 459952
ClinVar RCV Id: RCV000530261
dbSNP Id: rs754312389

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896306C>T , CM000681.2:g.12896306C>T GRCh38
NC_000019.9:g.13007120C>T , CM000681.1:g.13007120C>T GRCh37
NC_000019.8:g.12868120C>T NCBI36
NG_009292.1:g.10147C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.737C>T MANE Select ENSP00000222214.4:p.Ser246Leu
ENST00000222214.9:c.737C>T ENSP00000222214.4:p.Ser246Leu
ENST00000421816.6:n.715C>T
ENST00000585420.5:n.1067C>T
ENST00000590530.5:c.*177C>T ENSP00000468452.1:n.*177C>T
ENST00000591043.1:n.773C>T
ENST00000591470.5:c.737C>T ENSP00000466845.1:p.Ser246Leu
NM_000159.3:c.737C>T NP_000150.1:p.Ser246Leu
NM_013976.3:c.737C>T NP_039663.1:p.Ser246Leu
NR_102316.1:n.900C>T
NR_102317.1:n.1118C>T
XM_006722721.2:c.737C>T XP_006722784.1:p.Ser246Leu
XM_011527899.1:c.737C>T XP_011526201.1:p.Ser246Leu
XM_011527900.1:c.737C>T XP_011526202.1:p.Ser246Leu
XM_011527899.2:c.737C>T XP_011526201.1:p.Ser246Leu
XM_011527900.2:c.737C>T XP_011526202.1:p.Ser246Leu
XM_017026580.1:c.737C>T XP_016882069.1:p.Ser246Leu
NM_000159.4:c.737C>T MANE Select NP_000150.1:p.Ser246Leu
NM_013976.4:c.737C>T NP_039663.1:p.Ser246Leu
NM_013976.5:c.737C>T NP_039663.1:p.Ser246Leu