Canonical Allele Identifier: CA392377246

Gene: HDC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1706T>A MANE Select	ENSP00000267845.3:p.Leu569Gln
ENST00000267845.7:c.1706T>A	ENSP00000267845.3:p.Leu569Gln
ENST00000543581.5:c.1607T>A	ENSP00000440252.1:p.Leu536Gln
ENST00000559816.1:n.1450T>A
NM_001306146.1:c.1607T>A	NP_001293075.1:p.Leu536Gln
NM_002112.3:c.1706T>A	NP_002103.2:p.Leu569Gln
XM_011521479.1:c.1469T>A	XP_011519781.1:p.Leu490Gln
XM_011521480.1:c.1274T>A	XP_011519782.1:p.Leu425Gln
XM_017022094.1:c.1811T>A	XP_016877583.1:p.Leu604Gln
XM_017022095.1:c.1712T>A	XP_016877584.1:p.Leu571Gln
XM_017022096.1:c.1583T>A	XP_016877585.1:p.Leu528Gln
XM_017022097.1:c.1574T>A	XP_016877586.1:p.Leu525Gln
XM_017022098.1:c.1379T>A	XP_016877587.1:p.Leu460Gln
NM_002112.4:c.1706T>A MANE Select	NP_002103.2:p.Leu569Gln
NM_001306146.2:c.1607T>A	NP_001293075.1:p.Leu536Gln