Canonical Allele Identifier: CA392377253
Gene: HDC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242546A>G , CM000677.2:g.50242546A>G GRCh38
NC_000015.9:g.50534743A>G , CM000677.1:g.50534743A>G GRCh37
NC_000015.8:g.48322035A>G NCBI36
NG_027487.1:g.28420T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1703T>C MANE Select ENSP00000267845.3:p.Phe568Ser
ENST00000267845.7:c.1703T>C ENSP00000267845.3:p.Phe568Ser
ENST00000543581.5:c.1604T>C ENSP00000440252.1:p.Phe535Ser
ENST00000559816.1:n.1447T>C
NM_001306146.1:c.1604T>C NP_001293075.1:p.Phe535Ser
NM_002112.3:c.1703T>C NP_002103.2:p.Phe568Ser
XM_011521479.1:c.1466T>C XP_011519781.1:p.Phe489Ser
XM_011521480.1:c.1271T>C XP_011519782.1:p.Phe424Ser
XM_017022094.1:c.1808T>C XP_016877583.1:p.Phe603Ser
XM_017022095.1:c.1709T>C XP_016877584.1:p.Phe570Ser
XM_017022096.1:c.1580T>C XP_016877585.1:p.Phe527Ser
XM_017022097.1:c.1571T>C XP_016877586.1:p.Phe524Ser
XM_017022098.1:c.1376T>C XP_016877587.1:p.Phe459Ser
NM_002112.4:c.1703T>C MANE Select NP_002103.2:p.Phe568Ser
NM_001306146.2:c.1604T>C NP_001293075.1:p.Phe535Ser