Canonical Allele Identifier: CA392376437

Gene: HDC

Linked Data

• dbSNP Id: rs1190882769
• gnomAD v2: 15-50534483-A-C
• gnomAD v4: 15-50242286-A-C
• MyVariant Identifiers: chr15:g.50534483A>C (hg19) ; chr15:g.50242286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242286A>C , CM000677.2:g.50242286A>C	GRCh38
NC_000015.9:g.50534483A>C , CM000677.1:g.50534483A>C	GRCh37
NC_000015.8:g.48321775A>C	NCBI36
NG_027487.1:g.28680T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1963T>G MANE Select	ENSP00000267845.3:p.Cys655Gly
ENST00000267845.7:c.1963T>G	ENSP00000267845.3:p.Cys655Gly
ENST00000543581.5:c.1864T>G	ENSP00000440252.1:p.Cys622Gly
ENST00000559816.1:n.1707T>G
NM_001306146.1:c.1864T>G	NP_001293075.1:p.Cys622Gly
NM_002112.3:c.1963T>G	NP_002103.2:p.Cys655Gly
XM_011521479.1:c.1726T>G	XP_011519781.1:p.Cys576Gly
XM_011521480.1:c.1531T>G	XP_011519782.1:p.Cys511Gly
XM_017022094.1:c.2068T>G	XP_016877583.1:p.Cys690Gly
XM_017022095.1:c.1969T>G	XP_016877584.1:p.Cys657Gly
XM_017022096.1:c.1840T>G	XP_016877585.1:p.Cys614Gly
XM_017022097.1:c.1831T>G	XP_016877586.1:p.Cys611Gly
XM_017022098.1:c.1636T>G	XP_016877587.1:p.Cys546Gly
NM_002112.4:c.1963T>G MANE Select	NP_002103.2:p.Cys655Gly
NM_001306146.2:c.1864T>G	NP_001293075.1:p.Cys622Gly