Canonical Allele Identifier: CA30900305

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291864G>A , CM000663.2:g.155291864G>A	GRCh38
NC_000001.10:g.155261655G>A , CM000663.1:g.155261655G>A	GRCh37
NC_000001.9:g.153528279G>A	NCBI36
NG_011677.1:g.14571C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.1510C>T MANE Select	NP_000289.1:p.Arg504Cys
ENST00000342741.6:c.1510C>T MANE Select	ENSP00000339933.4:p.Arg504Cys
NM_000298.5:c.1510C>T	NP_000289.1:p.Arg504Cys
NM_181871.3:c.1417C>T	NP_870986.1:p.Arg473Cys
NM_181871.4:c.1417C>T	NP_870986.1:p.Arg473Cys
ENST00000342741.4:c.1510C>T	ENSP00000339933.4:p.Arg504Cys
ENST00000392414.7:c.1417C>T	ENSP00000376214.3:p.Arg473Cys
XM_005245266.3:c.1669C>T	XP_005245323.1:p.Arg557Cys
XM_006711386.2:c.1318C>T	XP_006711449.1:p.Arg440Cys
XM_006711386.4:c.1318C>T	XP_006711449.1:p.Arg440Cys
XM_011509640.1:c.1318C>T	XP_011507942.1:p.Arg440Cys
XM_011509640.3:c.1318C>T	XP_011507942.1:p.Arg440Cys