Canonical Allele Identifier: CA2323622037
Community Standard Title: NM_000159.4(GCDH):c.416C= (p.Ser139=)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893564C= , CM000681.2:g.12893564C= GRCh38
NC_000019.9:g.13004378C= , CM000681.1:g.13004378C= GRCh37
NC_000019.8:g.12865378C= NCBI36
NG_009292.1:g.7405C=

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.416C= MANE Select NP_000150.1:p.Ser139=
ENST00000222214.10:c.416C= MANE Select ENSP00000222214.4:p.Ser139=
NM_000159.3:c.416C= NP_000150.1:p.Ser139=
NM_013976.3:c.416C= NP_039663.1:p.Ser139=
NM_013976.4:c.416C= NP_039663.1:p.Ser139=
NM_013976.5:c.416C= NP_039663.1:p.Ser139=
NR_102316.1:n.579C=
NR_102317.1:n.832C=
ENST00000222214.9:c.416C= ENSP00000222214.4:p.Ser139=
ENST00000421816.6:n.394C=
ENST00000585420.5:n.781C=
ENST00000587832.5:n.473C=
ENST00000588905.5:c.380C= ENSP00000465770.1:p.Ser127=
ENST00000589039.5:c.353C= ENSP00000465618.1:p.Ser118=
ENST00000590530.5:c.471C= ENSP00000468452.1:p.Val157=
ENST00000590627.5:n.781C=
ENST00000591043.1:n.452C=
ENST00000591470.5:c.416C= ENSP00000466845.1:p.Ser139=
XM_006722721.2:c.416C= XP_006722784.1:p.Ser139=
XM_011527899.1:c.416C= XP_011526201.1:p.Ser139=
XM_011527899.2:c.416C= XP_011526201.1:p.Ser139=
XM_011527900.1:c.416C= XP_011526202.1:p.Ser139=
XM_011527900.2:c.416C= XP_011526202.1:p.Ser139=
XM_017026580.1:c.416C= XP_016882069.1:p.Ser139=