Canonical Allele Identifier: CA7554549

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242769T>C , CM000677.2:g.50242769T>C	GRCh38
NC_000015.9:g.50534966T>C , CM000677.1:g.50534966T>C	GRCh37
NC_000015.8:g.48322258T>C	NCBI36
NG_027487.1:g.28197A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.1480A>G MANE Select	NP_002103.2:p.Ile494Val
ENST00000267845.8:c.1480A>G MANE Select	ENSP00000267845.3:p.Ile494Val
NM_001306146.1:c.1381A>G	NP_001293075.1:p.Ile461Val
NM_001306146.2:c.1381A>G	NP_001293075.1:p.Ile461Val
NM_002112.3:c.1480A>G	NP_002103.2:p.Ile494Val
ENST00000267845.7:c.1480A>G	ENSP00000267845.3:p.Ile494Val
ENST00000543581.5:c.1381A>G	ENSP00000440252.1:p.Ile461Val
ENST00000559816.1:n.1224A>G
XM_011521479.1:c.1243A>G	XP_011519781.1:p.Ile415Val
XM_011521480.1:c.1048A>G	XP_011519782.1:p.Ile350Val
XM_017022094.1:c.1585A>G	XP_016877583.1:p.Ile529Val
XM_017022095.1:c.1486A>G	XP_016877584.1:p.Ile496Val
XM_017022096.1:c.1357A>G	XP_016877585.1:p.Ile453Val
XM_017022097.1:c.1348A>G	XP_016877586.1:p.Ile450Val
XM_017022098.1:c.1153A>G	XP_016877587.1:p.Ile385Val