Canonical Allele Identifier: CA392379899

Gene: HDC

Linked Data

• dbSNP Id: rs267606861
• MyVariant Identifiers: chr15:g.50544717C>A (hg19) ; chr15:g.50252520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50252520C>A , CM000677.2:g.50252520C>A	GRCh38
NC_000015.9:g.50544717C>A , CM000677.1:g.50544717C>A	GRCh37
NC_000015.8:g.48332009C>A	NCBI36
NG_027487.1:g.18446G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.951G>T MANE Select	ENSP00000267845.3:p.Trp317Cys
ENST00000267845.7:c.951G>T	ENSP00000267845.3:p.Trp317Cys
ENST00000543581.5:c.951G>T	ENSP00000440252.1:p.Trp317Cys
ENST00000559816.1:n.695G>T
NM_001306146.1:c.951G>T	NP_001293075.1:p.Trp317Cys
NM_002112.3:c.951G>T	NP_002103.2:p.Trp317Cys
XM_011521479.1:c.714G>T	XP_011519781.1:p.Trp238Cys
XM_011521480.1:c.519G>T	XP_011519782.1:p.Trp173Cys
XM_011521481.1:c.951G>T	XP_011519783.1:p.Trp317Cys
XM_017022094.1:c.1056G>T	XP_016877583.1:p.Trp352Cys
XM_017022095.1:c.1056G>T	XP_016877584.1:p.Trp352Cys
XM_017022096.1:c.828G>T	XP_016877585.1:p.Trp276Cys
XM_017022097.1:c.819G>T	XP_016877586.1:p.Trp273Cys
XM_017022098.1:c.624G>T	XP_016877587.1:p.Trp208Cys
XM_017022099.1:c.1056G>T	XP_016877588.1:p.Trp352Cys
NM_002112.4:c.951G>T MANE Select	NP_002103.2:p.Trp317Cys
NM_001306146.2:c.951G>T	NP_001293075.1:p.Trp317Cys