Canonical Allele Identifier: CA392376979

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534612C>T (hg19) ; chr15:g.50242415C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242415C>T , CM000677.2:g.50242415C>T	GRCh38
NC_000015.9:g.50534612C>T , CM000677.1:g.50534612C>T	GRCh37
NC_000015.8:g.48321904C>T	NCBI36
NG_027487.1:g.28551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1834G>A MANE Select	ENSP00000267845.3:p.Val612Ile
ENST00000267845.7:c.1834G>A	ENSP00000267845.3:p.Val612Ile
ENST00000543581.5:c.1735G>A	ENSP00000440252.1:p.Val579Ile
ENST00000559816.1:n.1578G>A
NM_001306146.1:c.1735G>A	NP_001293075.1:p.Val579Ile
NM_002112.3:c.1834G>A	NP_002103.2:p.Val612Ile
XM_011521479.1:c.1597G>A	XP_011519781.1:p.Val533Ile
XM_011521480.1:c.1402G>A	XP_011519782.1:p.Val468Ile
XM_017022094.1:c.1939G>A	XP_016877583.1:p.Val647Ile
XM_017022095.1:c.1840G>A	XP_016877584.1:p.Val614Ile
XM_017022096.1:c.1711G>A	XP_016877585.1:p.Val571Ile
XM_017022097.1:c.1702G>A	XP_016877586.1:p.Val568Ile
XM_017022098.1:c.1507G>A	XP_016877587.1:p.Val503Ile
NM_002112.4:c.1834G>A MANE Select	NP_002103.2:p.Val612Ile
NM_001306146.2:c.1735G>A	NP_001293075.1:p.Val579Ile