Canonical Allele Identifier: CA392376848

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534555T>C (hg19) ; chr15:g.50242358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242358T>C , CM000677.2:g.50242358T>C	GRCh38
NC_000015.9:g.50534555T>C , CM000677.1:g.50534555T>C	GRCh37
NC_000015.8:g.48321847T>C	NCBI36
NG_027487.1:g.28608A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1891A>G MANE Select	ENSP00000267845.3:p.Lys631Glu
ENST00000267845.7:c.1891A>G	ENSP00000267845.3:p.Lys631Glu
ENST00000543581.5:c.1792A>G	ENSP00000440252.1:p.Lys598Glu
ENST00000559816.1:n.1635A>G
NM_001306146.1:c.1792A>G	NP_001293075.1:p.Lys598Glu
NM_002112.3:c.1891A>G	NP_002103.2:p.Lys631Glu
XM_011521479.1:c.1654A>G	XP_011519781.1:p.Lys552Glu
XM_011521480.1:c.1459A>G	XP_011519782.1:p.Lys487Glu
XM_017022094.1:c.1996A>G	XP_016877583.1:p.Lys666Glu
XM_017022095.1:c.1897A>G	XP_016877584.1:p.Lys633Glu
XM_017022096.1:c.1768A>G	XP_016877585.1:p.Lys590Glu
XM_017022097.1:c.1759A>G	XP_016877586.1:p.Lys587Glu
XM_017022098.1:c.1564A>G	XP_016877587.1:p.Lys522Glu
NM_002112.4:c.1891A>G MANE Select	NP_002103.2:p.Lys631Glu
NM_001306146.2:c.1792A>G	NP_001293075.1:p.Lys598Glu