Canonical Allele Identifier: CA392376830

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534548A>T (hg19) ; chr15:g.50242351A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242351A>T , CM000677.2:g.50242351A>T	GRCh38
NC_000015.9:g.50534548A>T , CM000677.1:g.50534548A>T	GRCh37
NC_000015.8:g.48321840A>T	NCBI36
NG_027487.1:g.28615T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1898T>A MANE Select	ENSP00000267845.3:p.Leu633His
ENST00000267845.7:c.1898T>A	ENSP00000267845.3:p.Leu633His
ENST00000543581.5:c.1799T>A	ENSP00000440252.1:p.Leu600His
ENST00000559816.1:n.1642T>A
NM_001306146.1:c.1799T>A	NP_001293075.1:p.Leu600His
NM_002112.3:c.1898T>A	NP_002103.2:p.Leu633His
XM_011521479.1:c.1661T>A	XP_011519781.1:p.Leu554His
XM_011521480.1:c.1466T>A	XP_011519782.1:p.Leu489His
XM_017022094.1:c.2003T>A	XP_016877583.1:p.Leu668His
XM_017022095.1:c.1904T>A	XP_016877584.1:p.Leu635His
XM_017022096.1:c.1775T>A	XP_016877585.1:p.Leu592His
XM_017022097.1:c.1766T>A	XP_016877586.1:p.Leu589His
XM_017022098.1:c.1571T>A	XP_016877587.1:p.Leu524His
NM_002112.4:c.1898T>A MANE Select	NP_002103.2:p.Leu633His
NM_001306146.2:c.1799T>A	NP_001293075.1:p.Leu600His