Canonical Allele Identifier: CA392377163

Gene: HDC

Linked Data

• dbSNP Id: rs1365725424
• gnomAD v2: 15-50534702-C-T
• gnomAD v4: 15-50242505-C-T
• MyVariant Identifiers: chr15:g.50534702C>T (hg19) ; chr15:g.50242505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242505C>T , CM000677.2:g.50242505C>T	GRCh38
NC_000015.9:g.50534702C>T , CM000677.1:g.50534702C>T	GRCh37
NC_000015.8:g.48321994C>T	NCBI36
NG_027487.1:g.28461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1744G>A MANE Select	ENSP00000267845.3:p.Val582Met
ENST00000267845.7:c.1744G>A	ENSP00000267845.3:p.Val582Met
ENST00000543581.5:c.1645G>A	ENSP00000440252.1:p.Val549Met
ENST00000559816.1:n.1488G>A
NM_001306146.1:c.1645G>A	NP_001293075.1:p.Val549Met
NM_002112.3:c.1744G>A	NP_002103.2:p.Val582Met
XM_011521479.1:c.1507G>A	XP_011519781.1:p.Val503Met
XM_011521480.1:c.1312G>A	XP_011519782.1:p.Val438Met
XM_017022094.1:c.1849G>A	XP_016877583.1:p.Val617Met
XM_017022095.1:c.1750G>A	XP_016877584.1:p.Val584Met
XM_017022096.1:c.1621G>A	XP_016877585.1:p.Val541Met
XM_017022097.1:c.1612G>A	XP_016877586.1:p.Val538Met
XM_017022098.1:c.1417G>A	XP_016877587.1:p.Val473Met
NM_002112.4:c.1744G>A MANE Select	NP_002103.2:p.Val582Met
NM_001306146.2:c.1645G>A	NP_001293075.1:p.Val549Met