Canonical Allele Identifier: CA404317545
Community Standard Title: NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893585C>A , CM000681.2:g.12893585C>A GRCh38
NC_000019.9:g.13004399C>A , CM000681.1:g.13004399C>A GRCh37
NC_000019.8:g.12865399C>A NCBI36
NG_009292.1:g.7426C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.437C>A MANE Select NP_000150.1:p.Ser146Tyr
ENST00000222214.10:c.437C>A MANE Select ENSP00000222214.4:p.Ser146Tyr
NM_000159.3:c.437C>A NP_000150.1:p.Ser146Tyr
NM_013976.3:c.437C>A NP_039663.1:p.Ser146Tyr
NM_013976.4:c.437C>A NP_039663.1:p.Ser146Tyr
NM_013976.5:c.437C>A NP_039663.1:p.Ser146Tyr
NR_102316.1:n.600C>A
NR_102317.1:n.853C>A
ENST00000222214.9:c.437C>A ENSP00000222214.4:p.Ser146Tyr
ENST00000421816.6:n.415C>A
ENST00000585420.5:n.802C>A
ENST00000587832.5:n.494C>A
ENST00000588905.5:c.401C>A ENSP00000465770.1:p.Ser134Tyr
ENST00000589039.5:c.374C>A ENSP00000465618.1:p.Ser125Tyr
ENST00000590530.5:c.492C>A ENSP00000468452.1:p.Leu164=
ENST00000590627.5:n.802C>A
ENST00000591043.1:n.473C>A
ENST00000591470.5:c.437C>A ENSP00000466845.1:p.Ser146Tyr
XM_006722721.2:c.437C>A XP_006722784.1:p.Ser146Tyr
XM_011527899.1:c.437C>A XP_011526201.1:p.Ser146Tyr
XM_011527899.2:c.437C>A XP_011526201.1:p.Ser146Tyr
XM_011527900.1:c.437C>A XP_011526202.1:p.Ser146Tyr
XM_011527900.2:c.437C>A XP_011526202.1:p.Ser146Tyr
XM_017026580.1:c.437C>A XP_016882069.1:p.Ser146Tyr