Canonical Allele Identifier: CA404317943
Gene: GCDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896006C>G , CM000681.2:g.12896006C>G GRCh38
NC_000019.9:g.13006820C>G , CM000681.1:g.13006820C>G GRCh37
NC_000019.8:g.12867820C>G NCBI36
NG_009292.1:g.9847C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.520C>G MANE Select ENSP00000222214.4:p.Leu174Val
ENST00000222214.9:c.520C>G ENSP00000222214.4:p.Leu174Val
ENST00000421816.6:n.498C>G
ENST00000585420.5:n.885C>G
ENST00000588905.5:c.484C>G ENSP00000465770.1:p.Leu162Val
ENST00000590530.5:c.575C>G ENSP00000468452.1:p.Pro192Arg
ENST00000591043.1:n.556C>G
ENST00000591470.5:c.520C>G ENSP00000466845.1:p.Leu174Val
NM_000159.3:c.520C>G NP_000150.1:p.Leu174Val
NM_013976.3:c.520C>G NP_039663.1:p.Leu174Val
NR_102316.1:n.683C>G
NR_102317.1:n.936C>G
XM_006722721.2:c.520C>G XP_006722784.1:p.Leu174Val
XM_011527899.1:c.520C>G XP_011526201.1:p.Leu174Val
XM_011527900.1:c.520C>G XP_011526202.1:p.Leu174Val
XM_011527899.2:c.520C>G XP_011526201.1:p.Leu174Val
XM_011527900.2:c.520C>G XP_011526202.1:p.Leu174Val
XM_017026580.1:c.520C>G XP_016882069.1:p.Leu174Val
NM_000159.4:c.520C>G MANE Select NP_000150.1:p.Leu174Val
NM_013976.4:c.520C>G NP_039663.1:p.Leu174Val
NM_013976.5:c.520C>G NP_039663.1:p.Leu174Val