Canonical Allele Identifier: CA270413845

Gene: HDC

Linked Data

• dbSNP Id: rs148195092
• COSMIC: COSM109524
• MyVariant Identifiers: chr15:g.50534599G>A (hg19) ; chr15:g.50242402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242402G>A , CM000677.2:g.50242402G>A	GRCh38
NC_000015.9:g.50534599G>A , CM000677.1:g.50534599G>A	GRCh37
NC_000015.8:g.48321891G>A	NCBI36
NG_027487.1:g.28564C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1847C>T MANE Select	ENSP00000267845.3:p.Ser616Phe
ENST00000267845.7:c.1847C>T	ENSP00000267845.3:p.Ser616Phe
ENST00000543581.5:c.1748C>T	ENSP00000440252.1:p.Ser583Phe
ENST00000559816.1:n.1591C>T
NM_001306146.1:c.1748C>T	NP_001293075.1:p.Ser583Phe
NM_002112.3:c.1847C>T	NP_002103.2:p.Ser616Phe
XM_011521479.1:c.1610C>T	XP_011519781.1:p.Ser537Phe
XM_011521480.1:c.1415C>T	XP_011519782.1:p.Ser472Phe
XM_017022094.1:c.1952C>T	XP_016877583.1:p.Ser651Phe
XM_017022095.1:c.1853C>T	XP_016877584.1:p.Ser618Phe
XM_017022096.1:c.1724C>T	XP_016877585.1:p.Ser575Phe
XM_017022097.1:c.1715C>T	XP_016877586.1:p.Ser572Phe
XM_017022098.1:c.1520C>T	XP_016877587.1:p.Ser507Phe
NM_002112.4:c.1847C>T MANE Select	NP_002103.2:p.Ser616Phe
NM_001306146.2:c.1748C>T	NP_001293075.1:p.Ser583Phe