Canonical Allele Identifier: CA7554503

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242506C>T , CM000677.2:g.50242506C>T	GRCh38
NC_000015.9:g.50534703C>T , CM000677.1:g.50534703C>T	GRCh37
NC_000015.8:g.48321995C>T	NCBI36
NG_027487.1:g.28460G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.1743G>A MANE Select	NP_002103.2:p.Thr581=
ENST00000267845.8:c.1743G>A MANE Select	ENSP00000267845.3:p.Thr581=
NM_001306146.1:c.1644G>A	NP_001293075.1:p.Thr548=
NM_001306146.2:c.1644G>A	NP_001293075.1:p.Thr548=
NM_002112.3:c.1743G>A	NP_002103.2:p.Thr581=
ENST00000267845.7:c.1743G>A	ENSP00000267845.3:p.Thr581=
ENST00000543581.5:c.1644G>A	ENSP00000440252.1:p.Thr548=
ENST00000559816.1:n.1487G>A
XM_011521479.1:c.1506G>A	XP_011519781.1:p.Thr502=
XM_011521480.1:c.1311G>A	XP_011519782.1:p.Thr437=
XM_017022094.1:c.1848G>A	XP_016877583.1:p.Thr616=
XM_017022095.1:c.1749G>A	XP_016877584.1:p.Thr583=
XM_017022096.1:c.1620G>A	XP_016877585.1:p.Thr540=
XM_017022097.1:c.1611G>A	XP_016877586.1:p.Thr537=
XM_017022098.1:c.1416G>A	XP_016877587.1:p.Thr472=