Canonical Allele Identifier: CA2323623655
Community Standard Title: NM_000159.4(GCDH):c.883T= (p.Tyr295=)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896940T= , CM000681.2:g.12896940T= GRCh38
NC_000019.9:g.13007754T= , CM000681.1:g.13007754T= GRCh37
NC_000019.8:g.12868754T= NCBI36
NG_009292.1:g.10781T=

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.883T= MANE Select NP_000150.1:p.Tyr295=
ENST00000222214.10:c.883T= MANE Select ENSP00000222214.4:p.Tyr295=
NM_000159.3:c.883T= NP_000150.1:p.Tyr295=
NM_013976.3:c.883T= NP_039663.1:p.Tyr295=
NM_013976.4:c.883T= NP_039663.1:p.Tyr295=
NM_013976.5:c.883T= NP_039663.1:p.Tyr295=
NR_102316.1:n.1046T=
NR_102317.1:n.1264T=
ENST00000222214.9:c.883T= ENSP00000222214.4:p.Tyr295=
ENST00000421816.6:n.861T=
ENST00000585420.5:n.1213T=
ENST00000590530.5:c.*323T= ENSP00000468452.1:n.*323T=
ENST00000591043.1:n.919T=
ENST00000591470.5:c.883T= ENSP00000466845.1:p.Tyr295=
XM_006722721.2:c.883T= XP_006722784.1:p.Tyr295=
XM_011527899.1:c.883T= XP_011526201.1:p.Tyr295=
XM_011527899.2:c.883T= XP_011526201.1:p.Tyr295=
XM_011527900.1:c.883T= XP_011526202.1:p.Tyr295=
XM_011527900.2:c.883T= XP_011526202.1:p.Tyr295=
XM_017026580.1:c.883T= XP_016882069.1:p.Tyr295=