Canonical Allele Identifier: CA392377083

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534663G>T (hg19) ; chr15:g.50242466G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242466G>T , CM000677.2:g.50242466G>T	GRCh38
NC_000015.9:g.50534663G>T , CM000677.1:g.50534663G>T	GRCh37
NC_000015.8:g.48321955G>T	NCBI36
NG_027487.1:g.28500C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1783C>A MANE Select	ENSP00000267845.3:p.Gln595Lys
ENST00000267845.7:c.1783C>A	ENSP00000267845.3:p.Gln595Lys
ENST00000543581.5:c.1684C>A	ENSP00000440252.1:p.Gln562Lys
ENST00000559816.1:n.1527C>A
NM_001306146.1:c.1684C>A	NP_001293075.1:p.Gln562Lys
NM_002112.3:c.1783C>A	NP_002103.2:p.Gln595Lys
XM_011521479.1:c.1546C>A	XP_011519781.1:p.Gln516Lys
XM_011521480.1:c.1351C>A	XP_011519782.1:p.Gln451Lys
XM_017022094.1:c.1888C>A	XP_016877583.1:p.Gln630Lys
XM_017022095.1:c.1789C>A	XP_016877584.1:p.Gln597Lys
XM_017022096.1:c.1660C>A	XP_016877585.1:p.Gln554Lys
XM_017022097.1:c.1651C>A	XP_016877586.1:p.Gln551Lys
XM_017022098.1:c.1456C>A	XP_016877587.1:p.Gln486Lys
NM_002112.4:c.1783C>A MANE Select	NP_002103.2:p.Gln595Lys
NM_001306146.2:c.1684C>A	NP_001293075.1:p.Gln562Lys