Canonical Allele Identifier: CA392376997

Gene: HDC

Linked Data

• dbSNP Id: rs2045408047
• gnomAD v4: 15-50242426-C-T
• MyVariant Identifiers: chr15:g.50534623C>T (hg19) ; chr15:g.50242426C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242426C>T , CM000677.2:g.50242426C>T	GRCh38
NC_000015.9:g.50534623C>T , CM000677.1:g.50534623C>T	GRCh37
NC_000015.8:g.48321915C>T	NCBI36
NG_027487.1:g.28540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1823G>A MANE Select	ENSP00000267845.3:p.Gly608Asp
ENST00000267845.7:c.1823G>A	ENSP00000267845.3:p.Gly608Asp
ENST00000543581.5:c.1724G>A	ENSP00000440252.1:p.Gly575Asp
ENST00000559816.1:n.1567G>A
NM_001306146.1:c.1724G>A	NP_001293075.1:p.Gly575Asp
NM_002112.3:c.1823G>A	NP_002103.2:p.Gly608Asp
XM_011521479.1:c.1586G>A	XP_011519781.1:p.Gly529Asp
XM_011521480.1:c.1391G>A	XP_011519782.1:p.Gly464Asp
XM_017022094.1:c.1928G>A	XP_016877583.1:p.Gly643Asp
XM_017022095.1:c.1829G>A	XP_016877584.1:p.Gly610Asp
XM_017022096.1:c.1700G>A	XP_016877585.1:p.Gly567Asp
XM_017022097.1:c.1691G>A	XP_016877586.1:p.Gly564Asp
XM_017022098.1:c.1496G>A	XP_016877587.1:p.Gly499Asp
NM_002112.4:c.1823G>A MANE Select	NP_002103.2:p.Gly608Asp
NM_001306146.2:c.1724G>A	NP_001293075.1:p.Gly575Asp