Canonical Allele Identifier: CA342756207

Gene: PKLR

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295709C>G , CM000663.2:g.155295709C>G	GRCh38
NC_000001.10:g.155265500C>G , CM000663.1:g.155265500C>G	GRCh37
NC_000001.9:g.153532124C>G	NCBI36
NG_011677.1:g.10726G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.331G>C MANE Select	ENSP00000339933.4:p.Gly111Arg
ENST00000434082.3:c.139G>C	ENSP00000398037.3:p.Gly47Arg
ENST00000342741.4:c.331G>C	ENSP00000339933.4:p.Gly111Arg
ENST00000392414.7:c.238G>C	ENSP00000376214.3:p.Gly80Arg
ENST00000434082.2:c.236G>C	ENSP00000398037.2:n.236G>C
NM_000298.5:c.331G>C	NP_000289.1:p.Gly111Arg
NM_181871.3:c.238G>C	NP_870986.1:p.Gly80Arg
XM_005245266.3:c.490G>C	XP_005245323.1:p.Gly164Arg
XM_006711386.2:c.139G>C	XP_006711449.1:p.Gly47Arg
XM_011509639.1:c.490G>C	XP_011507941.1:p.Gly164Arg
XM_011509640.1:c.139G>C	XP_011507942.1:p.Gly47Arg
NM_000298.6:c.331G>C MANE Select	NP_000289.1:p.Gly111Arg
XM_006711386.4:c.139G>C	XP_006711449.1:p.Gly47Arg
XM_011509640.3:c.139G>C	XP_011507942.1:p.Gly47Arg
XM_017001493.1:c.331G>C	XP_016856982.1:p.Gly111Arg
NM_181871.4:c.238G>C	NP_870986.1:p.Gly80Arg