Canonical Allele Identifier: CA392376859

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534560G>T (hg19) ; chr15:g.50242363G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242363G>T , CM000677.2:g.50242363G>T	GRCh38
NC_000015.9:g.50534560G>T , CM000677.1:g.50534560G>T	GRCh37
NC_000015.8:g.48321852G>T	NCBI36
NG_027487.1:g.28603C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1886C>A MANE Select	ENSP00000267845.3:p.Ala629Asp
ENST00000267845.7:c.1886C>A	ENSP00000267845.3:p.Ala629Asp
ENST00000543581.5:c.1787C>A	ENSP00000440252.1:p.Ala596Asp
ENST00000559816.1:n.1630C>A
NM_001306146.1:c.1787C>A	NP_001293075.1:p.Ala596Asp
NM_002112.3:c.1886C>A	NP_002103.2:p.Ala629Asp
XM_011521479.1:c.1649C>A	XP_011519781.1:p.Ala550Asp
XM_011521480.1:c.1454C>A	XP_011519782.1:p.Ala485Asp
XM_017022094.1:c.1991C>A	XP_016877583.1:p.Ala664Asp
XM_017022095.1:c.1892C>A	XP_016877584.1:p.Ala631Asp
XM_017022096.1:c.1763C>A	XP_016877585.1:p.Ala588Asp
XM_017022097.1:c.1754C>A	XP_016877586.1:p.Ala585Asp
XM_017022098.1:c.1559C>A	XP_016877587.1:p.Ala520Asp
NM_002112.4:c.1886C>A MANE Select	NP_002103.2:p.Ala629Asp
NM_001306146.2:c.1787C>A	NP_001293075.1:p.Ala596Asp