Canonical Allele Identifier: CA392377141

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534690T>A (hg19) ; chr15:g.50242493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242493T>A , CM000677.2:g.50242493T>A	GRCh38
NC_000015.9:g.50534690T>A , CM000677.1:g.50534690T>A	GRCh37
NC_000015.8:g.48321982T>A	NCBI36
NG_027487.1:g.28473A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1756A>T MANE Select	ENSP00000267845.3:p.Ser586Cys
ENST00000267845.7:c.1756A>T	ENSP00000267845.3:p.Ser586Cys
ENST00000543581.5:c.1657A>T	ENSP00000440252.1:p.Ser553Cys
ENST00000559816.1:n.1500A>T
NM_001306146.1:c.1657A>T	NP_001293075.1:p.Ser553Cys
NM_002112.3:c.1756A>T	NP_002103.2:p.Ser586Cys
XM_011521479.1:c.1519A>T	XP_011519781.1:p.Ser507Cys
XM_011521480.1:c.1324A>T	XP_011519782.1:p.Ser442Cys
XM_017022094.1:c.1861A>T	XP_016877583.1:p.Ser621Cys
XM_017022095.1:c.1762A>T	XP_016877584.1:p.Ser588Cys
XM_017022096.1:c.1633A>T	XP_016877585.1:p.Ser545Cys
XM_017022097.1:c.1624A>T	XP_016877586.1:p.Ser542Cys
XM_017022098.1:c.1429A>T	XP_016877587.1:p.Ser477Cys
NM_002112.4:c.1756A>T MANE Select	NP_002103.2:p.Ser586Cys
NM_001306146.2:c.1657A>T	NP_001293075.1:p.Ser553Cys