Canonical Allele Identifier: CA404317560
Community Standard Title: NM_000159.4(GCDH):c.445A>G (p.Met149Val)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893593A>G , CM000681.2:g.12893593A>G GRCh38
NC_000019.9:g.13004407A>G , CM000681.1:g.13004407A>G GRCh37
NC_000019.8:g.12865407A>G NCBI36
NG_009292.1:g.7434A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.445A>G MANE Select NP_000150.1:p.Met149Val
ENST00000222214.10:c.445A>G MANE Select ENSP00000222214.4:p.Met149Val
NM_000159.3:c.445A>G NP_000150.1:p.Met149Val
NM_013976.3:c.445A>G NP_039663.1:p.Met149Val
NM_013976.4:c.445A>G NP_039663.1:p.Met149Val
NM_013976.5:c.445A>G NP_039663.1:p.Met149Val
NR_102316.1:n.608A>G
NR_102317.1:n.861A>G
ENST00000222214.9:c.445A>G ENSP00000222214.4:p.Met149Val
ENST00000421816.6:n.423A>G
ENST00000585420.5:n.810A>G
ENST00000587832.5:n.502A>G
ENST00000588905.5:c.409A>G ENSP00000465770.1:p.Met137Val
ENST00000589039.5:c.382A>G ENSP00000465618.1:p.Met128Val
ENST00000590530.5:c.500A>G ENSP00000468452.1:p.His167Arg
ENST00000590627.5:n.810A>G
ENST00000591043.1:n.481A>G
ENST00000591470.5:c.445A>G ENSP00000466845.1:p.Met149Val
XM_006722721.2:c.445A>G XP_006722784.1:p.Met149Val
XM_011527899.1:c.445A>G XP_011526201.1:p.Met149Val
XM_011527899.2:c.445A>G XP_011526201.1:p.Met149Val
XM_011527900.1:c.445A>G XP_011526202.1:p.Met149Val
XM_011527900.2:c.445A>G XP_011526202.1:p.Met149Val
XM_017026580.1:c.445A>G XP_016882069.1:p.Met149Val