Canonical Allele Identifier: CA392377184
Gene: HDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242515C>A , CM000677.2:g.50242515C>A GRCh38
NC_000015.9:g.50534712C>A , CM000677.1:g.50534712C>A GRCh37
NC_000015.8:g.48322004C>A NCBI36
NG_027487.1:g.28451G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1734G>T MANE Select ENSP00000267845.3:p.Lys578Asn
ENST00000267845.7:c.1734G>T ENSP00000267845.3:p.Lys578Asn
ENST00000543581.5:c.1635G>T ENSP00000440252.1:p.Lys545Asn
ENST00000559816.1:n.1478G>T
NM_001306146.1:c.1635G>T NP_001293075.1:p.Lys545Asn
NM_002112.3:c.1734G>T NP_002103.2:p.Lys578Asn
XM_011521479.1:c.1497G>T XP_011519781.1:p.Lys499Asn
XM_011521480.1:c.1302G>T XP_011519782.1:p.Lys434Asn
XM_017022094.1:c.1839G>T XP_016877583.1:p.Lys613Asn
XM_017022095.1:c.1740G>T XP_016877584.1:p.Lys580Asn
XM_017022096.1:c.1611G>T XP_016877585.1:p.Lys537Asn
XM_017022097.1:c.1602G>T XP_016877586.1:p.Lys534Asn
XM_017022098.1:c.1407G>T XP_016877587.1:p.Lys469Asn
NM_002112.4:c.1734G>T MANE Select NP_002103.2:p.Lys578Asn
NM_001306146.2:c.1635G>T NP_001293075.1:p.Lys545Asn