Canonical Allele Identifier: CA392376755

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534516C>A (hg19) ; chr15:g.50242319C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242319C>A , CM000677.2:g.50242319C>A	GRCh38
NC_000015.9:g.50534516C>A , CM000677.1:g.50534516C>A	GRCh37
NC_000015.8:g.48321808C>A	NCBI36
NG_027487.1:g.28647G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.1930G>T MANE Select	ENSP00000267845.3:p.Glu644Ter
ENST00000267845.7:c.1930G>T	ENSP00000267845.3:p.Glu644Ter
ENST00000543581.5:c.1831G>T	ENSP00000440252.1:p.Glu611Ter
ENST00000559816.1:n.1674G>T
NM_001306146.1:c.1831G>T	NP_001293075.1:p.Glu611Ter
NM_002112.3:c.1930G>T	NP_002103.2:p.Glu644Ter
XM_011521479.1:c.1693G>T	XP_011519781.1:p.Glu565Ter
XM_011521480.1:c.1498G>T	XP_011519782.1:p.Glu500Ter
XM_017022094.1:c.2035G>T	XP_016877583.1:p.Glu679Ter
XM_017022095.1:c.1936G>T	XP_016877584.1:p.Glu646Ter
XM_017022096.1:c.1807G>T	XP_016877585.1:p.Glu603Ter
XM_017022097.1:c.1798G>T	XP_016877586.1:p.Glu600Ter
XM_017022098.1:c.1603G>T	XP_016877587.1:p.Glu535Ter
NM_002112.4:c.1930G>T MANE Select	NP_002103.2:p.Glu644Ter
NM_001306146.2:c.1831G>T	NP_001293075.1:p.Glu611Ter