Canonical Allele Identifier: CA392377193

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534716G>A (hg19) ; chr15:g.50242519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242519G>A , CM000677.2:g.50242519G>A	GRCh38
NC_000015.9:g.50534716G>A , CM000677.1:g.50534716G>A	GRCh37
NC_000015.8:g.48322008G>A	NCBI36
NG_027487.1:g.28447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1730C>T MANE Select	ENSP00000267845.3:p.Thr577Ile
ENST00000267845.7:c.1730C>T	ENSP00000267845.3:p.Thr577Ile
ENST00000543581.5:c.1631C>T	ENSP00000440252.1:p.Thr544Ile
ENST00000559816.1:n.1474C>T
NM_001306146.1:c.1631C>T	NP_001293075.1:p.Thr544Ile
NM_002112.3:c.1730C>T	NP_002103.2:p.Thr577Ile
XM_011521479.1:c.1493C>T	XP_011519781.1:p.Thr498Ile
XM_011521480.1:c.1298C>T	XP_011519782.1:p.Thr433Ile
XM_017022094.1:c.1835C>T	XP_016877583.1:p.Thr612Ile
XM_017022095.1:c.1736C>T	XP_016877584.1:p.Thr579Ile
XM_017022096.1:c.1607C>T	XP_016877585.1:p.Thr536Ile
XM_017022097.1:c.1598C>T	XP_016877586.1:p.Thr533Ile
XM_017022098.1:c.1403C>T	XP_016877587.1:p.Thr468Ile
NM_002112.4:c.1730C>T MANE Select	NP_002103.2:p.Thr577Ile
NM_001306146.2:c.1631C>T	NP_001293075.1:p.Thr544Ile