Canonical Allele Identifier: CA392376751
Gene: HDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.50534514T>A (hg19) chr15:g.50242317T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242317T>A , CM000677.2:g.50242317T>A GRCh38
NC_000015.9:g.50534514T>A , CM000677.1:g.50534514T>A GRCh37
NC_000015.8:g.48321806T>A NCBI36
NG_027487.1:g.28649A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267845.8:c.1932A>T MANE Select ENSP00000267845.3:p.Glu644Asp
ENST00000267845.7:c.1932A>T ENSP00000267845.3:p.Glu644Asp
ENST00000543581.5:c.1833A>T ENSP00000440252.1:p.Glu611Asp
ENST00000559816.1:n.1676A>T
NM_001306146.1:c.1833A>T NP_001293075.1:p.Glu611Asp
NM_002112.3:c.1932A>T NP_002103.2:p.Glu644Asp
XM_011521479.1:c.1695A>T XP_011519781.1:p.Glu565Asp
XM_011521480.1:c.1500A>T XP_011519782.1:p.Glu500Asp
XM_017022094.1:c.2037A>T XP_016877583.1:p.Glu679Asp
XM_017022095.1:c.1938A>T XP_016877584.1:p.Glu646Asp
XM_017022096.1:c.1809A>T XP_016877585.1:p.Glu603Asp
XM_017022097.1:c.1800A>T XP_016877586.1:p.Glu600Asp
XM_017022098.1:c.1605A>T XP_016877587.1:p.Glu535Asp
NM_002112.4:c.1932A>T MANE Select NP_002103.2:p.Glu644Asp
NM_001306146.2:c.1833A>T NP_001293075.1:p.Glu611Asp
Search 100 bp 5'
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