Canonical Allele Identifier: CA617860176

Gene: HDC

Linked Data

• dbSNP Id: rs1427453955
• gnomAD v2: 15-50534425-A-G
• gnomAD v4: 15-50242228-A-G
• MyVariant Identifiers: chr15:g.50534425A>G (hg19) ; chr15:g.50242228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242228A>G , CM000677.2:g.50242228A>G	GRCh38
NC_000015.9:g.50534425A>G , CM000677.1:g.50534425A>G	GRCh37
NC_000015.8:g.48321717A>G	NCBI36
NG_027487.1:g.28738T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.*32T>C MANE Select	ENSP00000267845.3:n.*32T>C
ENST00000267845.7:c.*32T>C	ENSP00000267845.3:n.*32T>C
ENST00000543581.5:c.*32T>C	ENSP00000440252.1:n.*32T>C
ENST00000559816.1:n.1765T>C
NM_001306146.1:c.*32T>C	NP_001293075.1:n.*32T>C
NM_002112.3:c.*32T>C	NP_002103.2:n.*32T>C
XM_011521479.1:c.*32T>C	XP_011519781.1:n.*32T>C
XM_011521480.1:c.*32T>C	XP_011519782.1:n.*32T>C
XM_017022094.1:c.*32T>C	XP_016877583.1:n.*32T>C
XM_017022095.1:c.*32T>C	XP_016877584.1:n.*32T>C
XM_017022096.1:c.*32T>C	XP_016877585.1:n.*32T>C
XM_017022097.1:c.*32T>C	XP_016877586.1:n.*32T>C
XM_017022098.1:c.*32T>C	XP_016877587.1:n.*32T>C
NM_002112.4:c.*32T>C MANE Select	NP_002103.2:n.*32T>C
NM_001306146.2:c.*32T>C	NP_001293075.1:n.*32T>C