Canonical Allele Identifier: CA392377285

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534759G>A (hg19) ; chr15:g.50242562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242562G>A , CM000677.2:g.50242562G>A	GRCh38
NC_000015.9:g.50534759G>A , CM000677.1:g.50534759G>A	GRCh37
NC_000015.8:g.48322051G>A	NCBI36
NG_027487.1:g.28404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1687C>T MANE Select	ENSP00000267845.3:p.His563Tyr
ENST00000267845.7:c.1687C>T	ENSP00000267845.3:p.His563Tyr
ENST00000543581.5:c.1588C>T	ENSP00000440252.1:p.His530Tyr
ENST00000559816.1:n.1431C>T
NM_001306146.1:c.1588C>T	NP_001293075.1:p.His530Tyr
NM_002112.3:c.1687C>T	NP_002103.2:p.His563Tyr
XM_011521479.1:c.1450C>T	XP_011519781.1:p.His484Tyr
XM_011521480.1:c.1255C>T	XP_011519782.1:p.His419Tyr
XM_017022094.1:c.1792C>T	XP_016877583.1:p.His598Tyr
XM_017022095.1:c.1693C>T	XP_016877584.1:p.His565Tyr
XM_017022096.1:c.1564C>T	XP_016877585.1:p.His522Tyr
XM_017022097.1:c.1555C>T	XP_016877586.1:p.His519Tyr
XM_017022098.1:c.1360C>T	XP_016877587.1:p.His454Tyr
NM_002112.4:c.1687C>T MANE Select	NP_002103.2:p.His563Tyr
NM_001306146.2:c.1588C>T	NP_001293075.1:p.His530Tyr