Canonical Allele Identifier: CA392376838

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534551T>A (hg19) ; chr15:g.50242354T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242354T>A , CM000677.2:g.50242354T>A	GRCh38
NC_000015.9:g.50534551T>A , CM000677.1:g.50534551T>A	GRCh37
NC_000015.8:g.48321843T>A	NCBI36
NG_027487.1:g.28612A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1895A>T MANE Select	ENSP00000267845.3:p.Lys632Ile
ENST00000267845.7:c.1895A>T	ENSP00000267845.3:p.Lys632Ile
ENST00000543581.5:c.1796A>T	ENSP00000440252.1:p.Lys599Ile
ENST00000559816.1:n.1639A>T
NM_001306146.1:c.1796A>T	NP_001293075.1:p.Lys599Ile
NM_002112.3:c.1895A>T	NP_002103.2:p.Lys632Ile
XM_011521479.1:c.1658A>T	XP_011519781.1:p.Lys553Ile
XM_011521480.1:c.1463A>T	XP_011519782.1:p.Lys488Ile
XM_017022094.1:c.2000A>T	XP_016877583.1:p.Lys667Ile
XM_017022095.1:c.1901A>T	XP_016877584.1:p.Lys634Ile
XM_017022096.1:c.1772A>T	XP_016877585.1:p.Lys591Ile
XM_017022097.1:c.1763A>T	XP_016877586.1:p.Lys588Ile
XM_017022098.1:c.1568A>T	XP_016877587.1:p.Lys523Ile
NM_002112.4:c.1895A>T MANE Select	NP_002103.2:p.Lys632Ile
NM_001306146.2:c.1796A>T	NP_001293075.1:p.Lys599Ile