Canonical Allele Identifier: CA392377305

Gene: HDC

Linked Data

• dbSNP Id: rs2045411778
• gnomAD v4: 15-50242571-C-T
• MyVariant Identifiers: chr15:g.50534768C>T (hg19) ; chr15:g.50242571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242571C>T , CM000677.2:g.50242571C>T	GRCh38
NC_000015.9:g.50534768C>T , CM000677.1:g.50534768C>T	GRCh37
NC_000015.8:g.48322060C>T	NCBI36
NG_027487.1:g.28395G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1678G>A MANE Select	ENSP00000267845.3:p.Ala560Thr
ENST00000267845.7:c.1678G>A	ENSP00000267845.3:p.Ala560Thr
ENST00000543581.5:c.1579G>A	ENSP00000440252.1:p.Ala527Thr
ENST00000559816.1:n.1422G>A
NM_001306146.1:c.1579G>A	NP_001293075.1:p.Ala527Thr
NM_002112.3:c.1678G>A	NP_002103.2:p.Ala560Thr
XM_011521479.1:c.1441G>A	XP_011519781.1:p.Ala481Thr
XM_011521480.1:c.1246G>A	XP_011519782.1:p.Ala416Thr
XM_017022094.1:c.1783G>A	XP_016877583.1:p.Ala595Thr
XM_017022095.1:c.1684G>A	XP_016877584.1:p.Ala562Thr
XM_017022096.1:c.1555G>A	XP_016877585.1:p.Ala519Thr
XM_017022097.1:c.1546G>A	XP_016877586.1:p.Ala516Thr
XM_017022098.1:c.1351G>A	XP_016877587.1:p.Ala451Thr
NM_002112.4:c.1678G>A MANE Select	NP_002103.2:p.Ala560Thr
NM_001306146.2:c.1579G>A	NP_001293075.1:p.Ala527Thr