Canonical Allele Identifier: CA2176326609
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242475C= , CM000677.2:g.50242475C= GRCh38
NC_000015.9:g.50534672C= , CM000677.1:g.50534672C= GRCh37
NC_000015.8:g.48321964C= NCBI36
NG_027487.1:g.28491G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1774G= MANE Select ENSP00000267845.3:p.Val592=
ENST00000267845.7:c.1774G= ENSP00000267845.3:p.Val592=
ENST00000543581.5:c.1675G= ENSP00000440252.1:p.Val559=
ENST00000559816.1:n.1518G=
NM_001306146.1:c.1675G= NP_001293075.1:p.Val559=
NM_002112.3:c.1774G= NP_002103.2:p.Val592=
XM_011521479.1:c.1537G= XP_011519781.1:p.Val513=
XM_011521480.1:c.1342G= XP_011519782.1:p.Val448=
XM_017022094.1:c.1879G= XP_016877583.1:p.Val627=
XM_017022095.1:c.1780G= XP_016877584.1:p.Val594=
XM_017022096.1:c.1651G= XP_016877585.1:p.Val551=
XM_017022097.1:c.1642G= XP_016877586.1:p.Val548=
XM_017022098.1:c.1447G= XP_016877587.1:p.Val483=
NM_002112.4:c.1774G= MANE Select NP_002103.2:p.Val592=
NM_001306146.2:c.1675G= NP_001293075.1:p.Val559=