Canonical Allele Identifier: CA490314112

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534670C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242473C>A , CM000677.2:g.50242473C>A	GRCh38
NC_000015.9:g.50534670C>A , CM000677.1:g.50534670C>A	GRCh37
NC_000015.8:g.48321962C>A	NCBI36
NG_027487.1:g.28493G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1776G>T MANE Select	ENSP00000267845.3:p.Val592=
ENST00000267845.7:c.1776G>T	ENSP00000267845.3:p.Val592=
ENST00000543581.5:c.1677G>T	ENSP00000440252.1:p.Val559=
ENST00000559816.1:n.1520G>T
NM_001306146.1:c.1677G>T	NP_001293075.1:p.Val559=
NM_002112.3:c.1776G>T	NP_002103.2:p.Val592=
XM_011521479.1:c.1539G>T	XP_011519781.1:p.Val513=
XM_011521480.1:c.1344G>T	XP_011519782.1:p.Val448=
XM_017022094.1:c.1881G>T	XP_016877583.1:p.Val627=
XM_017022095.1:c.1782G>T	XP_016877584.1:p.Val594=
XM_017022096.1:c.1653G>T	XP_016877585.1:p.Val551=
XM_017022097.1:c.1644G>T	XP_016877586.1:p.Val548=
XM_017022098.1:c.1449G>T	XP_016877587.1:p.Val483=
NM_002112.4:c.1776G>T MANE Select	NP_002103.2:p.Val592=
NM_001306146.2:c.1677G>T	NP_001293075.1:p.Val559=