Canonical Allele Identifier: CA342753476

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294329C>G , CM000663.2:g.155294329C>G	GRCh38
NC_000001.10:g.155264120C>G , CM000663.1:g.155264120C>G	GRCh37
NC_000001.9:g.153530744C>G	NCBI36
NG_011677.1:g.12106G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.1022G>C MANE Select	NP_000289.1:p.Gly341Ala
ENST00000342741.6:c.1022G>C MANE Select	ENSP00000339933.4:p.Gly341Ala
NM_000298.5:c.1022G>C	NP_000289.1:p.Gly341Ala
NM_181871.3:c.929G>C	NP_870986.1:p.Gly310Ala
NM_181871.4:c.929G>C	NP_870986.1:p.Gly310Ala
ENST00000342741.4:c.1022G>C	ENSP00000339933.4:p.Gly341Ala
ENST00000392414.7:c.929G>C	ENSP00000376214.3:p.Gly310Ala
XM_005245266.3:c.1181G>C	XP_005245323.1:p.Gly394Ala
XM_006711386.2:c.830G>C	XP_006711449.1:p.Gly277Ala
XM_006711386.4:c.830G>C	XP_006711449.1:p.Gly277Ala
XM_011509639.1:c.1181G>C	XP_011507941.1:p.Gly394Ala
XM_011509640.1:c.830G>C	XP_011507942.1:p.Gly277Ala
XM_011509640.3:c.830G>C	XP_011507942.1:p.Gly277Ala
XM_017001493.1:c.1022G>C	XP_016856982.1:p.Gly341Ala