Canonical Allele Identifier: CA392376928

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534588C>G (hg19) ; chr15:g.50242391C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242391C>G , CM000677.2:g.50242391C>G	GRCh38
NC_000015.9:g.50534588C>G , CM000677.1:g.50534588C>G	GRCh37
NC_000015.8:g.48321880C>G	NCBI36
NG_027487.1:g.28575G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1858G>C MANE Select	ENSP00000267845.3:p.Glu620Gln
ENST00000267845.7:c.1858G>C	ENSP00000267845.3:p.Glu620Gln
ENST00000543581.5:c.1759G>C	ENSP00000440252.1:p.Glu587Gln
ENST00000559816.1:n.1602G>C
NM_001306146.1:c.1759G>C	NP_001293075.1:p.Glu587Gln
NM_002112.3:c.1858G>C	NP_002103.2:p.Glu620Gln
XM_011521479.1:c.1621G>C	XP_011519781.1:p.Glu541Gln
XM_011521480.1:c.1426G>C	XP_011519782.1:p.Glu476Gln
XM_017022094.1:c.1963G>C	XP_016877583.1:p.Glu655Gln
XM_017022095.1:c.1864G>C	XP_016877584.1:p.Glu622Gln
XM_017022096.1:c.1735G>C	XP_016877585.1:p.Glu579Gln
XM_017022097.1:c.1726G>C	XP_016877586.1:p.Glu576Gln
XM_017022098.1:c.1531G>C	XP_016877587.1:p.Glu511Gln
NM_002112.4:c.1858G>C MANE Select	NP_002103.2:p.Glu620Gln
NM_001306146.2:c.1759G>C	NP_001293075.1:p.Glu587Gln