Canonical Allele Identifier: CA392376985

Gene: HDC

Linked Data

• gnomAD v4: 15-50242418-T-C
• MyVariant Identifiers: chr15:g.50534615T>C (hg19) ; chr15:g.50242418T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242418T>C , CM000677.2:g.50242418T>C	GRCh38
NC_000015.9:g.50534615T>C , CM000677.1:g.50534615T>C	GRCh37
NC_000015.8:g.48321907T>C	NCBI36
NG_027487.1:g.28548A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1831A>G MANE Select	ENSP00000267845.3:p.Arg611Gly
ENST00000267845.7:c.1831A>G	ENSP00000267845.3:p.Arg611Gly
ENST00000543581.5:c.1732A>G	ENSP00000440252.1:p.Arg578Gly
ENST00000559816.1:n.1575A>G
NM_001306146.1:c.1732A>G	NP_001293075.1:p.Arg578Gly
NM_002112.3:c.1831A>G	NP_002103.2:p.Arg611Gly
XM_011521479.1:c.1594A>G	XP_011519781.1:p.Arg532Gly
XM_011521480.1:c.1399A>G	XP_011519782.1:p.Arg467Gly
XM_017022094.1:c.1936A>G	XP_016877583.1:p.Arg646Gly
XM_017022095.1:c.1837A>G	XP_016877584.1:p.Arg613Gly
XM_017022096.1:c.1708A>G	XP_016877585.1:p.Arg570Gly
XM_017022097.1:c.1699A>G	XP_016877586.1:p.Arg567Gly
XM_017022098.1:c.1504A>G	XP_016877587.1:p.Arg502Gly
NM_002112.4:c.1831A>G MANE Select	NP_002103.2:p.Arg611Gly
NM_001306146.2:c.1732A>G	NP_001293075.1:p.Arg578Gly