Canonical Allele Identifier: CA392377050

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534647G>T (hg19) ; chr15:g.50242450G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242450G>T , CM000677.2:g.50242450G>T	GRCh38
NC_000015.9:g.50534647G>T , CM000677.1:g.50534647G>T	GRCh37
NC_000015.8:g.48321939G>T	NCBI36
NG_027487.1:g.28516C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1799C>A MANE Select	ENSP00000267845.3:p.Thr600Lys
ENST00000267845.7:c.1799C>A	ENSP00000267845.3:p.Thr600Lys
ENST00000543581.5:c.1700C>A	ENSP00000440252.1:p.Thr567Lys
ENST00000559816.1:n.1543C>A
NM_001306146.1:c.1700C>A	NP_001293075.1:p.Thr567Lys
NM_002112.3:c.1799C>A	NP_002103.2:p.Thr600Lys
XM_011521479.1:c.1562C>A	XP_011519781.1:p.Thr521Lys
XM_011521480.1:c.1367C>A	XP_011519782.1:p.Thr456Lys
XM_017022094.1:c.1904C>A	XP_016877583.1:p.Thr635Lys
XM_017022095.1:c.1805C>A	XP_016877584.1:p.Thr602Lys
XM_017022096.1:c.1676C>A	XP_016877585.1:p.Thr559Lys
XM_017022097.1:c.1667C>A	XP_016877586.1:p.Thr556Lys
XM_017022098.1:c.1472C>A	XP_016877587.1:p.Thr491Lys
NM_002112.4:c.1799C>A MANE Select	NP_002103.2:p.Thr600Lys
NM_001306146.2:c.1700C>A	NP_001293075.1:p.Thr567Lys