Canonical Allele Identifier: CA392377247

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534740A>C (hg19) ; chr15:g.50242543A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242543A>C , CM000677.2:g.50242543A>C	GRCh38
NC_000015.9:g.50534740A>C , CM000677.1:g.50534740A>C	GRCh37
NC_000015.8:g.48322032A>C	NCBI36
NG_027487.1:g.28423T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1706T>G MANE Select	ENSP00000267845.3:p.Leu569Arg
ENST00000267845.7:c.1706T>G	ENSP00000267845.3:p.Leu569Arg
ENST00000543581.5:c.1607T>G	ENSP00000440252.1:p.Leu536Arg
ENST00000559816.1:n.1450T>G
NM_001306146.1:c.1607T>G	NP_001293075.1:p.Leu536Arg
NM_002112.3:c.1706T>G	NP_002103.2:p.Leu569Arg
XM_011521479.1:c.1469T>G	XP_011519781.1:p.Leu490Arg
XM_011521480.1:c.1274T>G	XP_011519782.1:p.Leu425Arg
XM_017022094.1:c.1811T>G	XP_016877583.1:p.Leu604Arg
XM_017022095.1:c.1712T>G	XP_016877584.1:p.Leu571Arg
XM_017022096.1:c.1583T>G	XP_016877585.1:p.Leu528Arg
XM_017022097.1:c.1574T>G	XP_016877586.1:p.Leu525Arg
XM_017022098.1:c.1379T>G	XP_016877587.1:p.Leu460Arg
NM_002112.4:c.1706T>G MANE Select	NP_002103.2:p.Leu569Arg
NM_001306146.2:c.1607T>G	NP_001293075.1:p.Leu536Arg