Canonical Allele Identifier: CA392376458

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534494A>T (hg19) ; chr15:g.50242297A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242297A>T , CM000677.2:g.50242297A>T	GRCh38
NC_000015.9:g.50534494A>T , CM000677.1:g.50534494A>T	GRCh37
NC_000015.8:g.48321786A>T	NCBI36
NG_027487.1:g.28669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1952T>A MANE Select	ENSP00000267845.3:p.Leu651His
ENST00000267845.7:c.1952T>A	ENSP00000267845.3:p.Leu651His
ENST00000543581.5:c.1853T>A	ENSP00000440252.1:p.Leu618His
ENST00000559816.1:n.1696T>A
NM_001306146.1:c.1853T>A	NP_001293075.1:p.Leu618His
NM_002112.3:c.1952T>A	NP_002103.2:p.Leu651His
XM_011521479.1:c.1715T>A	XP_011519781.1:p.Leu572His
XM_011521480.1:c.1520T>A	XP_011519782.1:p.Leu507His
XM_017022094.1:c.2057T>A	XP_016877583.1:p.Leu686His
XM_017022095.1:c.1958T>A	XP_016877584.1:p.Leu653His
XM_017022096.1:c.1829T>A	XP_016877585.1:p.Leu610His
XM_017022097.1:c.1820T>A	XP_016877586.1:p.Leu607His
XM_017022098.1:c.1625T>A	XP_016877587.1:p.Leu542His
NM_002112.4:c.1952T>A MANE Select	NP_002103.2:p.Leu651His
NM_001306146.2:c.1853T>A	NP_001293075.1:p.Leu618His