Canonical Allele Identifier: CA392377001

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534624C>T (hg19) ; chr15:g.50242427C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1822G>A MANE Select	ENSP00000267845.3:p.Gly608Ser
ENST00000267845.7:c.1822G>A	ENSP00000267845.3:p.Gly608Ser
ENST00000543581.5:c.1723G>A	ENSP00000440252.1:p.Gly575Ser
ENST00000559816.1:n.1566G>A
NM_001306146.1:c.1723G>A	NP_001293075.1:p.Gly575Ser
NM_002112.3:c.1822G>A	NP_002103.2:p.Gly608Ser
XM_011521479.1:c.1585G>A	XP_011519781.1:p.Gly529Ser
XM_011521480.1:c.1390G>A	XP_011519782.1:p.Gly464Ser
XM_017022094.1:c.1927G>A	XP_016877583.1:p.Gly643Ser
XM_017022095.1:c.1828G>A	XP_016877584.1:p.Gly610Ser
XM_017022096.1:c.1699G>A	XP_016877585.1:p.Gly567Ser
XM_017022097.1:c.1690G>A	XP_016877586.1:p.Gly564Ser
XM_017022098.1:c.1495G>A	XP_016877587.1:p.Gly499Ser
NM_002112.4:c.1822G>A MANE Select	NP_002103.2:p.Gly608Ser
NM_001306146.2:c.1723G>A	NP_001293075.1:p.Gly575Ser