Canonical Allele Identifier: CA392376841

Gene: HDC

Linked Data

• dbSNP Id: rs2045405962
• gnomAD v3: 15-50242355-T-G
• gnomAD v4: 15-50242355-T-G
• MyVariant Identifiers: chr15:g.50534552T>G (hg19) ; chr15:g.50242355T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242355T>G , CM000677.2:g.50242355T>G	GRCh38
NC_000015.9:g.50534552T>G , CM000677.1:g.50534552T>G	GRCh37
NC_000015.8:g.48321844T>G	NCBI36
NG_027487.1:g.28611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1894A>C MANE Select	ENSP00000267845.3:p.Lys632Gln
ENST00000267845.7:c.1894A>C	ENSP00000267845.3:p.Lys632Gln
ENST00000543581.5:c.1795A>C	ENSP00000440252.1:p.Lys599Gln
ENST00000559816.1:n.1638A>C
NM_001306146.1:c.1795A>C	NP_001293075.1:p.Lys599Gln
NM_002112.3:c.1894A>C	NP_002103.2:p.Lys632Gln
XM_011521479.1:c.1657A>C	XP_011519781.1:p.Lys553Gln
XM_011521480.1:c.1462A>C	XP_011519782.1:p.Lys488Gln
XM_017022094.1:c.1999A>C	XP_016877583.1:p.Lys667Gln
XM_017022095.1:c.1900A>C	XP_016877584.1:p.Lys634Gln
XM_017022096.1:c.1771A>C	XP_016877585.1:p.Lys591Gln
XM_017022097.1:c.1762A>C	XP_016877586.1:p.Lys588Gln
XM_017022098.1:c.1567A>C	XP_016877587.1:p.Lys523Gln
NM_002112.4:c.1894A>C MANE Select	NP_002103.2:p.Lys632Gln
NM_001306146.2:c.1795A>C	NP_001293075.1:p.Lys599Gln