Canonical Allele Identifier: CA1144025

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155293240C>T , CM000663.2:g.155293240C>T	GRCh38
NC_000001.10:g.155263031C>T , CM000663.1:g.155263031C>T	GRCh37
NC_000001.9:g.153529655C>T	NCBI36
NG_011677.1:g.13195G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.1373G>A MANE Select	NP_000289.1:p.Gly458Asp
ENST00000342741.6:c.1373G>A MANE Select	ENSP00000339933.4:p.Gly458Asp
NM_000298.5:c.1373G>A	NP_000289.1:p.Gly458Asp
NM_181871.3:c.1280G>A	NP_870986.1:p.Gly427Asp
NM_181871.4:c.1280G>A	NP_870986.1:p.Gly427Asp
ENST00000342741.4:c.1373G>A	ENSP00000339933.4:p.Gly458Asp
ENST00000392414.7:c.1280G>A	ENSP00000376214.3:p.Gly427Asp
XM_005245266.3:c.1532G>A	XP_005245323.1:p.Gly511Asp
XM_006711386.2:c.1181G>A	XP_006711449.1:p.Gly394Asp
XM_006711386.4:c.1181G>A	XP_006711449.1:p.Gly394Asp
XM_011509640.1:c.1181G>A	XP_011507942.1:p.Gly394Asp
XM_011509640.3:c.1181G>A	XP_011507942.1:p.Gly394Asp