Canonical Allele Identifier: CA14100451

Gene: HDC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50249962C>G , CM000677.2:g.50249962C>G	GRCh38
NC_000015.9:g.50542159C>G , CM000677.1:g.50542159C>G	GRCh37
NC_000015.8:g.48329451C>G	NCBI36
NG_027487.1:g.21004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1042-1619G>C MANE Select	ENSP00000267845.3:n.1042-1619G>C
ENST00000267845.7:c.1042-1619G>C	ENSP00000267845.3:n.1042-1619G>C
ENST00000543581.5:c.1041+2468G>C	ENSP00000440252.1:n.1041+2468G>C
ENST00000559816.1:n.786-1619G>C
NM_001306146.1:c.1041+2468G>C	NP_001293075.1:n.1041+2468G>C
NM_002112.3:c.1042-1619G>C	NP_002103.2:n.1042-1619G>C
XM_011521479.1:c.805-1619G>C	XP_011519781.1:n.805-1619G>C
XM_011521480.1:c.610-1619G>C	XP_011519782.1:n.610-1619G>C
XM_011521481.1:c.1042-345G>C	XP_011519783.1:n.1042-345G>C
XM_017022094.1:c.1147-1619G>C	XP_016877583.1:n.1147-1619G>C
XM_017022095.1:c.1146+2468G>C	XP_016877584.1:n.1146+2468G>C
XM_017022096.1:c.919-1619G>C	XP_016877585.1:n.919-1619G>C
XM_017022097.1:c.910-1619G>C	XP_016877586.1:n.910-1619G>C
XM_017022098.1:c.715-1619G>C	XP_016877587.1:n.715-1619G>C
XM_017022099.1:c.1147-345G>C	XP_016877588.1:n.1147-345G>C
NM_002112.4:c.1042-1619G>C MANE Select	NP_002103.2:n.1042-1619G>C
NM_001306146.2:c.1041+2468G>C	NP_001293075.1:n.1041+2468G>C