Canonical Allele Identifier: CA342750426

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291783G>T , CM000663.2:g.155291783G>T	GRCh38
NC_000001.10:g.155261574G>T , CM000663.1:g.155261574G>T	GRCh37
NC_000001.9:g.153528198G>T	NCBI36
NG_011677.1:g.14652C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.1591C>A MANE Select	NP_000289.1:p.Arg531Ser
ENST00000342741.6:c.1591C>A MANE Select	ENSP00000339933.4:p.Arg531Ser
NM_000298.5:c.1591C>A	NP_000289.1:p.Arg531Ser
NM_181871.3:c.1498C>A	NP_870986.1:p.Arg500Ser
NM_181871.4:c.1498C>A	NP_870986.1:p.Arg500Ser
ENST00000342741.4:c.1591C>A	ENSP00000339933.4:p.Arg531Ser
ENST00000392414.7:c.1498C>A	ENSP00000376214.3:p.Arg500Ser
XM_005245266.3:c.1750C>A	XP_005245323.1:p.Arg584Ser
XM_006711386.2:c.1399C>A	XP_006711449.1:p.Arg467Ser
XM_006711386.4:c.1399C>A	XP_006711449.1:p.Arg467Ser
XM_011509640.1:c.1399C>A	XP_011507942.1:p.Arg467Ser
XM_011509640.3:c.1399C>A	XP_011507942.1:p.Arg467Ser