Canonical Allele Identifier: CA392377148

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534693G>T (hg19) ; chr15:g.50242496G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242496G>T , CM000677.2:g.50242496G>T	GRCh38
NC_000015.9:g.50534693G>T , CM000677.1:g.50534693G>T	GRCh37
NC_000015.8:g.48321985G>T	NCBI36
NG_027487.1:g.28470C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1753C>A MANE Select	ENSP00000267845.3:p.Leu585Ile
ENST00000267845.7:c.1753C>A	ENSP00000267845.3:p.Leu585Ile
ENST00000543581.5:c.1654C>A	ENSP00000440252.1:p.Leu552Ile
ENST00000559816.1:n.1497C>A
NM_001306146.1:c.1654C>A	NP_001293075.1:p.Leu552Ile
NM_002112.3:c.1753C>A	NP_002103.2:p.Leu585Ile
XM_011521479.1:c.1516C>A	XP_011519781.1:p.Leu506Ile
XM_011521480.1:c.1321C>A	XP_011519782.1:p.Leu441Ile
XM_017022094.1:c.1858C>A	XP_016877583.1:p.Leu620Ile
XM_017022095.1:c.1759C>A	XP_016877584.1:p.Leu587Ile
XM_017022096.1:c.1630C>A	XP_016877585.1:p.Leu544Ile
XM_017022097.1:c.1621C>A	XP_016877586.1:p.Leu541Ile
XM_017022098.1:c.1426C>A	XP_016877587.1:p.Leu476Ile
NM_002112.4:c.1753C>A MANE Select	NP_002103.2:p.Leu585Ile
NM_001306146.2:c.1654C>A	NP_001293075.1:p.Leu552Ile