Canonical Allele Identifier: CA2176326630
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242528G= , CM000677.2:g.50242528G= GRCh38
NC_000015.9:g.50534725G= , CM000677.1:g.50534725G= GRCh37
NC_000015.8:g.48322017G= NCBI36
NG_027487.1:g.28438C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1721C= MANE Select ENSP00000267845.3:p.Ser574=
ENST00000267845.7:c.1721C= ENSP00000267845.3:p.Ser574=
ENST00000543581.5:c.1622C= ENSP00000440252.1:p.Ser541=
ENST00000559816.1:n.1465C=
NM_001306146.1:c.1622C= NP_001293075.1:p.Ser541=
NM_002112.3:c.1721C= NP_002103.2:p.Ser574=
XM_011521479.1:c.1484C= XP_011519781.1:p.Ser495=
XM_011521480.1:c.1289C= XP_011519782.1:p.Ser430=
XM_017022094.1:c.1826C= XP_016877583.1:p.Ser609=
XM_017022095.1:c.1727C= XP_016877584.1:p.Ser576=
XM_017022096.1:c.1598C= XP_016877585.1:p.Ser533=
XM_017022097.1:c.1589C= XP_016877586.1:p.Ser530=
XM_017022098.1:c.1394C= XP_016877587.1:p.Ser465=
NM_002112.4:c.1721C= MANE Select NP_002103.2:p.Ser574=
NM_001306146.2:c.1622C= NP_001293075.1:p.Ser541=