Canonical Allele Identifier: CA392377297

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534765T>A (hg19) ; chr15:g.50242568T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242568T>A , CM000677.2:g.50242568T>A	GRCh38
NC_000015.9:g.50534765T>A , CM000677.1:g.50534765T>A	GRCh37
NC_000015.8:g.48322057T>A	NCBI36
NG_027487.1:g.28398A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1681A>T MANE Select	ENSP00000267845.3:p.Thr561Ser
ENST00000267845.7:c.1681A>T	ENSP00000267845.3:p.Thr561Ser
ENST00000543581.5:c.1582A>T	ENSP00000440252.1:p.Thr528Ser
ENST00000559816.1:n.1425A>T
NM_001306146.1:c.1582A>T	NP_001293075.1:p.Thr528Ser
NM_002112.3:c.1681A>T	NP_002103.2:p.Thr561Ser
XM_011521479.1:c.1444A>T	XP_011519781.1:p.Thr482Ser
XM_011521480.1:c.1249A>T	XP_011519782.1:p.Thr417Ser
XM_017022094.1:c.1786A>T	XP_016877583.1:p.Thr596Ser
XM_017022095.1:c.1687A>T	XP_016877584.1:p.Thr563Ser
XM_017022096.1:c.1558A>T	XP_016877585.1:p.Thr520Ser
XM_017022097.1:c.1549A>T	XP_016877586.1:p.Thr517Ser
XM_017022098.1:c.1354A>T	XP_016877587.1:p.Thr452Ser
NM_002112.4:c.1681A>T MANE Select	NP_002103.2:p.Thr561Ser
NM_001306146.2:c.1582A>T	NP_001293075.1:p.Thr528Ser