Canonical Allele Identifier: CA1147469562
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290515C= , CM000663.2:g.155290515C= GRCh38
NC_000001.10:g.155260306C= , CM000663.1:g.155260306C= GRCh37
NC_000001.9:g.153526930C= NCBI36
NG_011677.1:g.15920G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*57G= MANE Select ENSP00000339933.4:n.*57G=
ENST00000342741.4:c.*57G= ENSP00000339933.4:n.*57G=
ENST00000392414.7:c.*57G= ENSP00000376214.3:n.*57G=
NM_000298.5:c.*57G= NP_000289.1:n.*57G=
NM_181871.3:c.*57G= NP_870986.1:n.*57G=
XM_005245266.3:c.*57G= XP_005245323.1:n.*57G=
XM_006711386.2:c.*57G= XP_006711449.1:n.*57G=
XM_011509640.1:c.*57G= XP_011507942.1:n.*57G=
NM_000298.6:c.*57G= MANE Select NP_000289.1:n.*57G=
XM_006711386.4:c.*57G= XP_006711449.1:n.*57G=
XM_011509640.3:c.*57G= XP_011507942.1:n.*57G=
NM_181871.4:c.*57G= NP_870986.1:n.*57G=