Canonical Allele Identifier: CA392376752

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534515T>A (hg19) ; chr15:g.50242318T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242318T>A , CM000677.2:g.50242318T>A	GRCh38
NC_000015.9:g.50534515T>A , CM000677.1:g.50534515T>A	GRCh37
NC_000015.8:g.48321807T>A	NCBI36
NG_027487.1:g.28648A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.1931A>T MANE Select	ENSP00000267845.3:p.Glu644Val
ENST00000267845.7:c.1931A>T	ENSP00000267845.3:p.Glu644Val
ENST00000543581.5:c.1832A>T	ENSP00000440252.1:p.Glu611Val
ENST00000559816.1:n.1675A>T
NM_001306146.1:c.1832A>T	NP_001293075.1:p.Glu611Val
NM_002112.3:c.1931A>T	NP_002103.2:p.Glu644Val
XM_011521479.1:c.1694A>T	XP_011519781.1:p.Glu565Val
XM_011521480.1:c.1499A>T	XP_011519782.1:p.Glu500Val
XM_017022094.1:c.2036A>T	XP_016877583.1:p.Glu679Val
XM_017022095.1:c.1937A>T	XP_016877584.1:p.Glu646Val
XM_017022096.1:c.1808A>T	XP_016877585.1:p.Glu603Val
XM_017022097.1:c.1799A>T	XP_016877586.1:p.Glu600Val
XM_017022098.1:c.1604A>T	XP_016877587.1:p.Glu535Val
NM_002112.4:c.1931A>T MANE Select	NP_002103.2:p.Glu644Val
NM_001306146.2:c.1832A>T	NP_001293075.1:p.Glu611Val