Canonical Allele Identifier: CA392377227

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534732A>C (hg19) ; chr15:g.50242535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242535A>C , CM000677.2:g.50242535A>C	GRCh38
NC_000015.9:g.50534732A>C , CM000677.1:g.50534732A>C	GRCh37
NC_000015.8:g.48322024A>C	NCBI36
NG_027487.1:g.28431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1714T>G MANE Select	ENSP00000267845.3:p.Tyr572Asp
ENST00000267845.7:c.1714T>G	ENSP00000267845.3:p.Tyr572Asp
ENST00000543581.5:c.1615T>G	ENSP00000440252.1:p.Tyr539Asp
ENST00000559816.1:n.1458T>G
NM_001306146.1:c.1615T>G	NP_001293075.1:p.Tyr539Asp
NM_002112.3:c.1714T>G	NP_002103.2:p.Tyr572Asp
XM_011521479.1:c.1477T>G	XP_011519781.1:p.Tyr493Asp
XM_011521480.1:c.1282T>G	XP_011519782.1:p.Tyr428Asp
XM_017022094.1:c.1819T>G	XP_016877583.1:p.Tyr607Asp
XM_017022095.1:c.1720T>G	XP_016877584.1:p.Tyr574Asp
XM_017022096.1:c.1591T>G	XP_016877585.1:p.Tyr531Asp
XM_017022097.1:c.1582T>G	XP_016877586.1:p.Tyr528Asp
XM_017022098.1:c.1387T>G	XP_016877587.1:p.Tyr463Asp
NM_002112.4:c.1714T>G MANE Select	NP_002103.2:p.Tyr572Asp
NM_001306146.2:c.1615T>G	NP_001293075.1:p.Tyr539Asp