Canonical Allele Identifier: CA713526804

Gene: HDC

Linked Data

• dbSNP Id: rs1202605353
• gnomAD v3: 15-50242163-T-C
• gnomAD v4: 15-50242163-T-C
• MyVariant Identifiers: chr15:g.50534360T>C (hg19) ; chr15:g.50242163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242163T>C , CM000677.2:g.50242163T>C	GRCh38
NC_000015.9:g.50534360T>C , CM000677.1:g.50534360T>C	GRCh37
NC_000015.8:g.48321652T>C	NCBI36
NG_027487.1:g.28803A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.*97A>G MANE Select	ENSP00000267845.3:n.*97A>G
ENST00000267845.7:c.*97A>G	ENSP00000267845.3:n.*97A>G
ENST00000543581.5:c.*97A>G	ENSP00000440252.1:n.*97A>G
ENST00000559816.1:n.1830A>G
NM_001306146.1:c.*97A>G	NP_001293075.1:n.*97A>G
NM_002112.3:c.*97A>G	NP_002103.2:n.*97A>G
XM_011521479.1:c.*97A>G	XP_011519781.1:n.*97A>G
XM_011521480.1:c.*97A>G	XP_011519782.1:n.*97A>G
XM_017022094.1:c.*97A>G	XP_016877583.1:n.*97A>G
XM_017022095.1:c.*97A>G	XP_016877584.1:n.*97A>G
XM_017022096.1:c.*97A>G	XP_016877585.1:n.*97A>G
XM_017022097.1:c.*97A>G	XP_016877586.1:n.*97A>G
XM_017022098.1:c.*97A>G	XP_016877587.1:n.*97A>G
NM_002112.4:c.*97A>G MANE Select	NP_002103.2:n.*97A>G
NM_001306146.2:c.*97A>G	NP_001293075.1:n.*97A>G