Canonical Allele Identifier: CA270413881

Gene: HDC

Linked Data

• dbSNP Id: rs868554492
• MyVariant Identifiers: chr15:g.50534641G>A (hg19) ; chr15:g.50242444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242444G>A , CM000677.2:g.50242444G>A	GRCh38
NC_000015.9:g.50534641G>A , CM000677.1:g.50534641G>A	GRCh37
NC_000015.8:g.48321933G>A	NCBI36
NG_027487.1:g.28522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1805C>T MANE Select	ENSP00000267845.3:p.Ala602Val
ENST00000267845.7:c.1805C>T	ENSP00000267845.3:p.Ala602Val
ENST00000543581.5:c.1706C>T	ENSP00000440252.1:p.Ala569Val
ENST00000559816.1:n.1549C>T
NM_001306146.1:c.1706C>T	NP_001293075.1:p.Ala569Val
NM_002112.3:c.1805C>T	NP_002103.2:p.Ala602Val
XM_011521479.1:c.1568C>T	XP_011519781.1:p.Ala523Val
XM_011521480.1:c.1373C>T	XP_011519782.1:p.Ala458Val
XM_017022094.1:c.1910C>T	XP_016877583.1:p.Ala637Val
XM_017022095.1:c.1811C>T	XP_016877584.1:p.Ala604Val
XM_017022096.1:c.1682C>T	XP_016877585.1:p.Ala561Val
XM_017022097.1:c.1673C>T	XP_016877586.1:p.Ala558Val
XM_017022098.1:c.1478C>T	XP_016877587.1:p.Ala493Val
NM_002112.4:c.1805C>T MANE Select	NP_002103.2:p.Ala602Val
NM_001306146.2:c.1706C>T	NP_001293075.1:p.Ala569Val