Canonical Allele Identifier: CA2628396028

Gene: HDC

Linked Data

• gnomAD v4: 15-50242147-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242147C>A , CM000677.2:g.50242147C>A	GRCh38
NC_000015.9:g.50534344C>A , CM000677.1:g.50534344C>A	GRCh37
NC_000015.8:g.48321636C>A	NCBI36
NG_027487.1:g.28819G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.*113G>T MANE Select	ENSP00000267845.3:n.*113G>T
ENST00000267845.7:c.*113G>T	ENSP00000267845.3:n.*113G>T
ENST00000543581.5:c.*113G>T	ENSP00000440252.1:n.*113G>T
ENST00000559816.1:n.1846G>T
NM_001306146.1:c.*113G>T	NP_001293075.1:n.*113G>T
NM_002112.3:c.*113G>T	NP_002103.2:n.*113G>T
XM_011521479.1:c.*113G>T	XP_011519781.1:n.*113G>T
XM_011521480.1:c.*113G>T	XP_011519782.1:n.*113G>T
XM_017022094.1:c.*113G>T	XP_016877583.1:n.*113G>T
XM_017022095.1:c.*113G>T	XP_016877584.1:n.*113G>T
XM_017022096.1:c.*113G>T	XP_016877585.1:n.*113G>T
XM_017022097.1:c.*113G>T	XP_016877586.1:n.*113G>T
XM_017022098.1:c.*113G>T	XP_016877587.1:n.*113G>T
NM_002112.4:c.*113G>T MANE Select	NP_002103.2:n.*113G>T
NM_001306146.2:c.*113G>T	NP_001293075.1:n.*113G>T