Canonical Allele Identifier: CA7554493

Gene: HDC

Linked Data

• dbSNP Id: rs375656460
• ExAC: 15:50534659 T / C
• gnomAD v2: 15-50534659-T-C
• gnomAD v3: 15-50242462-T-C
• gnomAD v4: 15-50242462-T-C
• MyVariant Identifiers: chr15:g.50534659T>C (hg19) ; chr15:g.50242462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242462T>C , CM000677.2:g.50242462T>C	GRCh38
NC_000015.9:g.50534659T>C , CM000677.1:g.50534659T>C	GRCh37
NC_000015.8:g.48321951T>C	NCBI36
NG_027487.1:g.28504A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1787A>G MANE Select	ENSP00000267845.3:p.Lys596Arg
ENST00000267845.7:c.1787A>G	ENSP00000267845.3:p.Lys596Arg
ENST00000543581.5:c.1688A>G	ENSP00000440252.1:p.Lys563Arg
ENST00000559816.1:n.1531A>G
NM_001306146.1:c.1688A>G	NP_001293075.1:p.Lys563Arg
NM_002112.3:c.1787A>G	NP_002103.2:p.Lys596Arg
XM_011521479.1:c.1550A>G	XP_011519781.1:p.Lys517Arg
XM_011521480.1:c.1355A>G	XP_011519782.1:p.Lys452Arg
XM_017022094.1:c.1892A>G	XP_016877583.1:p.Lys631Arg
XM_017022095.1:c.1793A>G	XP_016877584.1:p.Lys598Arg
XM_017022096.1:c.1664A>G	XP_016877585.1:p.Lys555Arg
XM_017022097.1:c.1655A>G	XP_016877586.1:p.Lys552Arg
XM_017022098.1:c.1460A>G	XP_016877587.1:p.Lys487Arg
NM_002112.4:c.1787A>G MANE Select	NP_002103.2:p.Lys596Arg
NM_001306146.2:c.1688A>G	NP_001293075.1:p.Lys563Arg