Canonical Allele Identifier: CA392376808

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534539A>C (hg19) ; chr15:g.50242342A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242342A>C , CM000677.2:g.50242342A>C	GRCh38
NC_000015.9:g.50534539A>C , CM000677.1:g.50534539A>C	GRCh37
NC_000015.8:g.48321831A>C	NCBI36
NG_027487.1:g.28624T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1907T>G MANE Select	ENSP00000267845.3:p.Phe636Cys
ENST00000267845.7:c.1907T>G	ENSP00000267845.3:p.Phe636Cys
ENST00000543581.5:c.1808T>G	ENSP00000440252.1:p.Phe603Cys
ENST00000559816.1:n.1651T>G
NM_001306146.1:c.1808T>G	NP_001293075.1:p.Phe603Cys
NM_002112.3:c.1907T>G	NP_002103.2:p.Phe636Cys
XM_011521479.1:c.1670T>G	XP_011519781.1:p.Phe557Cys
XM_011521480.1:c.1475T>G	XP_011519782.1:p.Phe492Cys
XM_017022094.1:c.2012T>G	XP_016877583.1:p.Phe671Cys
XM_017022095.1:c.1913T>G	XP_016877584.1:p.Phe638Cys
XM_017022096.1:c.1784T>G	XP_016877585.1:p.Phe595Cys
XM_017022097.1:c.1775T>G	XP_016877586.1:p.Phe592Cys
XM_017022098.1:c.1580T>G	XP_016877587.1:p.Phe527Cys
NM_002112.4:c.1907T>G MANE Select	NP_002103.2:p.Phe636Cys
NM_001306146.2:c.1808T>G	NP_001293075.1:p.Phe603Cys