Canonical Allele Identifier: CA392377178

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534710T>C (hg19) ; chr15:g.50242513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242513T>C , CM000677.2:g.50242513T>C	GRCh38
NC_000015.9:g.50534710T>C , CM000677.1:g.50534710T>C	GRCh37
NC_000015.8:g.48322002T>C	NCBI36
NG_027487.1:g.28453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1736A>G MANE Select	ENSP00000267845.3:p.Lys579Arg
ENST00000267845.7:c.1736A>G	ENSP00000267845.3:p.Lys579Arg
ENST00000543581.5:c.1637A>G	ENSP00000440252.1:p.Lys546Arg
ENST00000559816.1:n.1480A>G
NM_001306146.1:c.1637A>G	NP_001293075.1:p.Lys546Arg
NM_002112.3:c.1736A>G	NP_002103.2:p.Lys579Arg
XM_011521479.1:c.1499A>G	XP_011519781.1:p.Lys500Arg
XM_011521480.1:c.1304A>G	XP_011519782.1:p.Lys435Arg
XM_017022094.1:c.1841A>G	XP_016877583.1:p.Lys614Arg
XM_017022095.1:c.1742A>G	XP_016877584.1:p.Lys581Arg
XM_017022096.1:c.1613A>G	XP_016877585.1:p.Lys538Arg
XM_017022097.1:c.1604A>G	XP_016877586.1:p.Lys535Arg
XM_017022098.1:c.1409A>G	XP_016877587.1:p.Lys470Arg
NM_002112.4:c.1736A>G MANE Select	NP_002103.2:p.Lys579Arg
NM_001306146.2:c.1637A>G	NP_001293075.1:p.Lys546Arg