Canonical Allele Identifier: CA392377074

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534660T>A (hg19) ; chr15:g.50242463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242463T>A , CM000677.2:g.50242463T>A	GRCh38
NC_000015.9:g.50534660T>A , CM000677.1:g.50534660T>A	GRCh37
NC_000015.8:g.48321952T>A	NCBI36
NG_027487.1:g.28503A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1786A>T MANE Select	ENSP00000267845.3:p.Lys596Ter
ENST00000267845.7:c.1786A>T	ENSP00000267845.3:p.Lys596Ter
ENST00000543581.5:c.1687A>T	ENSP00000440252.1:p.Lys563Ter
ENST00000559816.1:n.1530A>T
NM_001306146.1:c.1687A>T	NP_001293075.1:p.Lys563Ter
NM_002112.3:c.1786A>T	NP_002103.2:p.Lys596Ter
XM_011521479.1:c.1549A>T	XP_011519781.1:p.Lys517Ter
XM_011521480.1:c.1354A>T	XP_011519782.1:p.Lys452Ter
XM_017022094.1:c.1891A>T	XP_016877583.1:p.Lys631Ter
XM_017022095.1:c.1792A>T	XP_016877584.1:p.Lys598Ter
XM_017022096.1:c.1663A>T	XP_016877585.1:p.Lys555Ter
XM_017022097.1:c.1654A>T	XP_016877586.1:p.Lys552Ter
XM_017022098.1:c.1459A>T	XP_016877587.1:p.Lys487Ter
NM_002112.4:c.1786A>T MANE Select	NP_002103.2:p.Lys596Ter
NM_001306146.2:c.1687A>T	NP_001293075.1:p.Lys563Ter