Canonical Allele Identifier: CA2481224811
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290609C= , CM000663.2:g.155290609C= GRCh38
NC_000001.10:g.155260400C= , CM000663.1:g.155260400C= GRCh37
NC_000001.9:g.153527024C= NCBI36
NG_011677.1:g.15826G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.1688G= MANE Select ENSP00000339933.4:p.Gly563=
ENST00000342741.4:c.1688G= ENSP00000339933.4:p.Gly563=
ENST00000392414.7:c.1595G= ENSP00000376214.3:p.Gly532=
NM_000298.5:c.1688G= NP_000289.1:p.Gly563=
NM_181871.3:c.1595G= NP_870986.1:p.Gly532=
XM_005245266.3:c.1847G= XP_005245323.1:p.Gly616=
XM_006711386.2:c.1496G= XP_006711449.1:p.Gly499=
XM_011509640.1:c.1496G= XP_011507942.1:p.Gly499=
NM_000298.6:c.1688G= MANE Select NP_000289.1:p.Gly563=
XM_006711386.4:c.1496G= XP_006711449.1:p.Gly499=
XM_011509640.3:c.1496G= XP_011507942.1:p.Gly499=
NM_181871.4:c.1595G= NP_870986.1:p.Gly532=