Canonical Allele Identifier: CA1144059

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155293438C>T , CM000663.2:g.155293438C>T	GRCh38
NC_000001.10:g.155263229C>T , CM000663.1:g.155263229C>T	GRCh37
NC_000001.9:g.153529853C>T	NCBI36
NG_011677.1:g.12997G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.1269G>A MANE Select	NP_000289.1:p.Ala423=
ENST00000342741.6:c.1269G>A MANE Select	ENSP00000339933.4:p.Ala423=
NM_000298.5:c.1269G>A	NP_000289.1:p.Ala423=
NM_181871.3:c.1176G>A	NP_870986.1:p.Ala392=
NM_181871.4:c.1176G>A	NP_870986.1:p.Ala392=
ENST00000342741.4:c.1269G>A	ENSP00000339933.4:p.Ala423=
ENST00000392414.7:c.1176G>A	ENSP00000376214.3:p.Ala392=
XM_005245266.3:c.1428G>A	XP_005245323.1:p.Ala476=
XM_006711386.2:c.1077G>A	XP_006711449.1:p.Ala359=
XM_006711386.4:c.1077G>A	XP_006711449.1:p.Ala359=
XM_011509640.1:c.1077G>A	XP_011507942.1:p.Ala359=
XM_011509640.3:c.1077G>A	XP_011507942.1:p.Ala359=