Canonical Allele Identifier: CA2176326599
Gene: HDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242454G= , CM000677.2:g.50242454G= GRCh38
NC_000015.9:g.50534651G= , CM000677.1:g.50534651G= GRCh37
NC_000015.8:g.48321943G= NCBI36
NG_027487.1:g.28512C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1795C= MANE Select ENSP00000267845.3:p.Pro599=
ENST00000267845.7:c.1795C= ENSP00000267845.3:p.Pro599=
ENST00000543581.5:c.1696C= ENSP00000440252.1:p.Pro566=
ENST00000559816.1:n.1539C=
NM_001306146.1:c.1696C= NP_001293075.1:p.Pro566=
NM_002112.3:c.1795C= NP_002103.2:p.Pro599=
XM_011521479.1:c.1558C= XP_011519781.1:p.Pro520=
XM_011521480.1:c.1363C= XP_011519782.1:p.Pro455=
XM_017022094.1:c.1900C= XP_016877583.1:p.Pro634=
XM_017022095.1:c.1801C= XP_016877584.1:p.Pro601=
XM_017022096.1:c.1672C= XP_016877585.1:p.Pro558=
XM_017022097.1:c.1663C= XP_016877586.1:p.Pro555=
XM_017022098.1:c.1468C= XP_016877587.1:p.Pro490=
NM_002112.4:c.1795C= MANE Select NP_002103.2:p.Pro599=
NM_001306146.2:c.1696C= NP_001293075.1:p.Pro566=