Canonical Allele Identifier: CA14117976

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50259733C>T , CM000677.2:g.50259733C>T	GRCh38
NC_000015.9:g.50551930C>T , CM000677.1:g.50551930C>T	GRCh37
NC_000015.8:g.48339222C>T	NCBI36
NG_027487.1:g.11233G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.205-1216G>A MANE Select	ENSP00000267845.3:n.205-1216G>A
ENST00000267845.7:c.205-1216G>A	ENSP00000267845.3:n.205-1216G>A
ENST00000543581.5:c.205-1216G>A	ENSP00000440252.1:n.205-1216G>A
ENST00000558679.1:n.547-1216G>A
ENST00000558761.5:n.307+3502G>A
ENST00000559190.5:n.82-1216G>A
ENST00000559683.1:c.187-1216G>A	ENSP00000453183.1:n.187-1216G>A
NM_001306146.1:c.205-1216G>A	NP_001293075.1:n.205-1216G>A
NM_002112.3:c.205-1216G>A	NP_002103.2:n.205-1216G>A
XM_011521479.1:c.204+3502G>A	XP_011519781.1:n.204+3502G>A
XM_011521481.1:c.205-1216G>A	XP_011519783.1:n.205-1216G>A
XM_017022094.1:c.205-1216G>A	XP_016877583.1:n.205-1216G>A
XM_017022095.1:c.205-1216G>A	XP_016877584.1:n.205-1216G>A
XM_017022097.1:c.204+3502G>A	XP_016877586.1:n.204+3502G>A
XM_017022099.1:c.205-1216G>A	XP_016877588.1:n.205-1216G>A
NM_002112.4:c.205-1216G>A MANE Select	NP_002103.2:n.205-1216G>A
NM_001306146.2:c.205-1216G>A	NP_001293075.1:n.205-1216G>A