Canonical Allele Identifier: CA2628396024

Gene: HDC

Linked Data

• gnomAD v4: 15-50242138-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242138A>T , CM000677.2:g.50242138A>T	GRCh38
NC_000015.9:g.50534335A>T , CM000677.1:g.50534335A>T	GRCh37
NC_000015.8:g.48321627A>T	NCBI36
NG_027487.1:g.28828T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.*122T>A MANE Select	ENSP00000267845.3:n.*122T>A
ENST00000267845.7:c.*122T>A	ENSP00000267845.3:n.*122T>A
ENST00000543581.5:c.*122T>A	ENSP00000440252.1:n.*122T>A
ENST00000559816.1:n.1855T>A
NM_001306146.1:c.*122T>A	NP_001293075.1:n.*122T>A
NM_002112.3:c.*122T>A	NP_002103.2:n.*122T>A
XM_011521479.1:c.*122T>A	XP_011519781.1:n.*122T>A
XM_011521480.1:c.*122T>A	XP_011519782.1:n.*122T>A
XM_017022094.1:c.*122T>A	XP_016877583.1:n.*122T>A
XM_017022095.1:c.*122T>A	XP_016877584.1:n.*122T>A
XM_017022096.1:c.*122T>A	XP_016877585.1:n.*122T>A
XM_017022097.1:c.*122T>A	XP_016877586.1:n.*122T>A
XM_017022098.1:c.*122T>A	XP_016877587.1:n.*122T>A
NM_002112.4:c.*122T>A MANE Select	NP_002103.2:n.*122T>A
NM_001306146.2:c.*122T>A	NP_001293075.1:n.*122T>A