Canonical Allele Identifier: CA2176311237
Community Standard Title: NM_002112.4(HDC):c.92C= (p.Thr31=)
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50263347G= , CM000677.2:g.50263347G= GRCh38
NC_000015.9:g.50555544G= , CM000677.1:g.50555544G= GRCh37
NC_000015.8:g.48342836G= NCBI36
NG_027487.1:g.7619C=

Transcript Alleles

HGVS Amino-acid Change
NM_002112.4:c.92C= MANE Select NP_002103.2:p.Thr31=
ENST00000267845.8:c.92C= MANE Select ENSP00000267845.3:p.Thr31=
NM_001306146.1:c.92C= NP_001293075.1:p.Thr31=
NM_001306146.2:c.92C= NP_001293075.1:p.Thr31=
NM_002112.3:c.92C= NP_002103.2:p.Thr31=
ENST00000267845.7:c.92C= ENSP00000267845.3:p.Thr31=
ENST00000543581.5:c.92C= ENSP00000440252.1:p.Thr31=
ENST00000558679.1:n.434C=
ENST00000558761.5:n.195C=
ENST00000559683.1:c.74C= ENSP00000453183.1:p.Thr25=
XM_011521479.1:c.92C= XP_011519781.1:p.Thr31=
XM_011521481.1:c.92C= XP_011519783.1:p.Thr31=
XM_017022094.1:c.92C= XP_016877583.1:p.Thr31=
XM_017022095.1:c.92C= XP_016877584.1:p.Thr31=
XM_017022097.1:c.92C= XP_016877586.1:p.Thr31=
XM_017022099.1:c.92C= XP_016877588.1:p.Thr31=