Canonical Allele Identifier: CA392377051

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534648T>A (hg19) ; chr15:g.50242451T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242451T>A , CM000677.2:g.50242451T>A	GRCh38
NC_000015.9:g.50534648T>A , CM000677.1:g.50534648T>A	GRCh37
NC_000015.8:g.48321940T>A	NCBI36
NG_027487.1:g.28515A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1798A>T MANE Select	ENSP00000267845.3:p.Thr600Ser
ENST00000267845.7:c.1798A>T	ENSP00000267845.3:p.Thr600Ser
ENST00000543581.5:c.1699A>T	ENSP00000440252.1:p.Thr567Ser
ENST00000559816.1:n.1542A>T
NM_001306146.1:c.1699A>T	NP_001293075.1:p.Thr567Ser
NM_002112.3:c.1798A>T	NP_002103.2:p.Thr600Ser
XM_011521479.1:c.1561A>T	XP_011519781.1:p.Thr521Ser
XM_011521480.1:c.1366A>T	XP_011519782.1:p.Thr456Ser
XM_017022094.1:c.1903A>T	XP_016877583.1:p.Thr635Ser
XM_017022095.1:c.1804A>T	XP_016877584.1:p.Thr602Ser
XM_017022096.1:c.1675A>T	XP_016877585.1:p.Thr559Ser
XM_017022097.1:c.1666A>T	XP_016877586.1:p.Thr556Ser
XM_017022098.1:c.1471A>T	XP_016877587.1:p.Thr491Ser
NM_002112.4:c.1798A>T MANE Select	NP_002103.2:p.Thr600Ser
NM_001306146.2:c.1699A>T	NP_001293075.1:p.Thr567Ser