Canonical Allele Identifier: CA392377047

Gene: HDC

Linked Data

• dbSNP Id: rs2045408312
• MyVariant Identifiers: chr15:g.50534645C>T (hg19) ; chr15:g.50242448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242448C>T , CM000677.2:g.50242448C>T	GRCh38
NC_000015.9:g.50534645C>T , CM000677.1:g.50534645C>T	GRCh37
NC_000015.8:g.48321937C>T	NCBI36
NG_027487.1:g.28518G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1801G>A MANE Select	ENSP00000267845.3:p.Glu601Lys
ENST00000267845.7:c.1801G>A	ENSP00000267845.3:p.Glu601Lys
ENST00000543581.5:c.1702G>A	ENSP00000440252.1:p.Glu568Lys
ENST00000559816.1:n.1545G>A
NM_001306146.1:c.1702G>A	NP_001293075.1:p.Glu568Lys
NM_002112.3:c.1801G>A	NP_002103.2:p.Glu601Lys
XM_011521479.1:c.1564G>A	XP_011519781.1:p.Glu522Lys
XM_011521480.1:c.1369G>A	XP_011519782.1:p.Glu457Lys
XM_017022094.1:c.1906G>A	XP_016877583.1:p.Glu636Lys
XM_017022095.1:c.1807G>A	XP_016877584.1:p.Glu603Lys
XM_017022096.1:c.1678G>A	XP_016877585.1:p.Glu560Lys
XM_017022097.1:c.1669G>A	XP_016877586.1:p.Glu557Lys
XM_017022098.1:c.1474G>A	XP_016877587.1:p.Glu492Lys
NM_002112.4:c.1801G>A MANE Select	NP_002103.2:p.Glu601Lys
NM_001306146.2:c.1702G>A	NP_001293075.1:p.Glu568Lys