Canonical Allele Identifier: CA392377266

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534750A>T (hg19) ; chr15:g.50242553A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242553A>T , CM000677.2:g.50242553A>T	GRCh38
NC_000015.9:g.50534750A>T , CM000677.1:g.50534750A>T	GRCh37
NC_000015.8:g.48322042A>T	NCBI36
NG_027487.1:g.28413T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1696T>A MANE Select	ENSP00000267845.3:p.Ser566Thr
ENST00000267845.7:c.1696T>A	ENSP00000267845.3:p.Ser566Thr
ENST00000543581.5:c.1597T>A	ENSP00000440252.1:p.Ser533Thr
ENST00000559816.1:n.1440T>A
NM_001306146.1:c.1597T>A	NP_001293075.1:p.Ser533Thr
NM_002112.3:c.1696T>A	NP_002103.2:p.Ser566Thr
XM_011521479.1:c.1459T>A	XP_011519781.1:p.Ser487Thr
XM_011521480.1:c.1264T>A	XP_011519782.1:p.Ser422Thr
XM_017022094.1:c.1801T>A	XP_016877583.1:p.Ser601Thr
XM_017022095.1:c.1702T>A	XP_016877584.1:p.Ser568Thr
XM_017022096.1:c.1573T>A	XP_016877585.1:p.Ser525Thr
XM_017022097.1:c.1564T>A	XP_016877586.1:p.Ser522Thr
XM_017022098.1:c.1369T>A	XP_016877587.1:p.Ser457Thr
NM_002112.4:c.1696T>A MANE Select	NP_002103.2:p.Ser566Thr
NM_001306146.2:c.1597T>A	NP_001293075.1:p.Ser533Thr