Canonical Allele Identifier: CA392376999

Gene: HDC

Linked Data

• gnomAD v4: 15-50242427-C-A
• MyVariant Identifiers: chr15:g.50534624C>A (hg19) ; chr15:g.50242427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242427C>A , CM000677.2:g.50242427C>A	GRCh38
NC_000015.9:g.50534624C>A , CM000677.1:g.50534624C>A	GRCh37
NC_000015.8:g.48321916C>A	NCBI36
NG_027487.1:g.28539G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1822G>T MANE Select	ENSP00000267845.3:p.Gly608Cys
ENST00000267845.7:c.1822G>T	ENSP00000267845.3:p.Gly608Cys
ENST00000543581.5:c.1723G>T	ENSP00000440252.1:p.Gly575Cys
ENST00000559816.1:n.1566G>T
NM_001306146.1:c.1723G>T	NP_001293075.1:p.Gly575Cys
NM_002112.3:c.1822G>T	NP_002103.2:p.Gly608Cys
XM_011521479.1:c.1585G>T	XP_011519781.1:p.Gly529Cys
XM_011521480.1:c.1390G>T	XP_011519782.1:p.Gly464Cys
XM_017022094.1:c.1927G>T	XP_016877583.1:p.Gly643Cys
XM_017022095.1:c.1828G>T	XP_016877584.1:p.Gly610Cys
XM_017022096.1:c.1699G>T	XP_016877585.1:p.Gly567Cys
XM_017022097.1:c.1690G>T	XP_016877586.1:p.Gly564Cys
XM_017022098.1:c.1495G>T	XP_016877587.1:p.Gly499Cys
NM_002112.4:c.1822G>T MANE Select	NP_002103.2:p.Gly608Cys
NM_001306146.2:c.1723G>T	NP_001293075.1:p.Gly575Cys