Canonical Allele Identifier: CA392377042

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534643C>G (hg19) ; chr15:g.50242446C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242446C>G , CM000677.2:g.50242446C>G	GRCh38
NC_000015.9:g.50534643C>G , CM000677.1:g.50534643C>G	GRCh37
NC_000015.8:g.48321935C>G	NCBI36
NG_027487.1:g.28520G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1803G>C MANE Select	ENSP00000267845.3:p.Glu601Asp
ENST00000267845.7:c.1803G>C	ENSP00000267845.3:p.Glu601Asp
ENST00000543581.5:c.1704G>C	ENSP00000440252.1:p.Glu568Asp
ENST00000559816.1:n.1547G>C
NM_001306146.1:c.1704G>C	NP_001293075.1:p.Glu568Asp
NM_002112.3:c.1803G>C	NP_002103.2:p.Glu601Asp
XM_011521479.1:c.1566G>C	XP_011519781.1:p.Glu522Asp
XM_011521480.1:c.1371G>C	XP_011519782.1:p.Glu457Asp
XM_017022094.1:c.1908G>C	XP_016877583.1:p.Glu636Asp
XM_017022095.1:c.1809G>C	XP_016877584.1:p.Glu603Asp
XM_017022096.1:c.1680G>C	XP_016877585.1:p.Glu560Asp
XM_017022097.1:c.1671G>C	XP_016877586.1:p.Glu557Asp
XM_017022098.1:c.1476G>C	XP_016877587.1:p.Glu492Asp
NM_002112.4:c.1803G>C MANE Select	NP_002103.2:p.Glu601Asp
NM_001306146.2:c.1704G>C	NP_001293075.1:p.Glu568Asp