Canonical Allele Identifier: CA2628396019

Gene: HDC

Linked Data

• gnomAD v4: 15-50242130-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242130T>G , CM000677.2:g.50242130T>G	GRCh38
NC_000015.9:g.50534327T>G , CM000677.1:g.50534327T>G	GRCh37
NC_000015.8:g.48321619T>G	NCBI36
NG_027487.1:g.28836A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.*130A>C MANE Select	ENSP00000267845.3:n.*130A>C
ENST00000267845.7:c.*130A>C	ENSP00000267845.3:n.*130A>C
ENST00000543581.5:c.*130A>C	ENSP00000440252.1:n.*130A>C
ENST00000559816.1:n.1863A>C
NM_001306146.1:c.*130A>C	NP_001293075.1:n.*130A>C
NM_002112.3:c.*130A>C	NP_002103.2:n.*130A>C
XM_011521479.1:c.*130A>C	XP_011519781.1:n.*130A>C
XM_011521480.1:c.*130A>C	XP_011519782.1:n.*130A>C
XM_017022094.1:c.*130A>C	XP_016877583.1:n.*130A>C
XM_017022095.1:c.*130A>C	XP_016877584.1:n.*130A>C
XM_017022096.1:c.*130A>C	XP_016877585.1:n.*130A>C
XM_017022097.1:c.*130A>C	XP_016877586.1:n.*130A>C
XM_017022098.1:c.*130A>C	XP_016877587.1:n.*130A>C
NM_002112.4:c.*130A>C MANE Select	NP_002103.2:n.*130A>C
NM_001306146.2:c.*130A>C	NP_001293075.1:n.*130A>C