Canonical Allele Identifier: CA2481225379
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155291745A= , CM000663.2:g.155291745A= GRCh38
NC_000001.10:g.155261536A= , CM000663.1:g.155261536A= GRCh37
NC_000001.9:g.153528160A= NCBI36
NG_011677.1:g.14690T=

Transcript Alleles

HGVS Amino-acid change
ENST00000342741.6:c.1618+11T= MANE Select ENSP00000339933.4:n.1618+11T=
ENST00000342741.4:c.1618+11T= ENSP00000339933.4:n.1618+11T=
ENST00000392414.7:c.1525+11T= ENSP00000376214.3:n.1525+11T=
NM_000298.5:c.1618+11T= NP_000289.1:n.1618+11T=
NM_181871.3:c.1525+11T= NP_870986.1:n.1525+11T=
XM_005245266.3:c.1777+11T= XP_005245323.1:n.1777+11T=
XM_006711386.2:c.1426+11T= XP_006711449.1:n.1426+11T=
XM_011509640.1:c.1426+11T= XP_011507942.1:n.1426+11T=
NM_000298.6:c.1618+11T= MANE Select NP_000289.1:n.1618+11T=
XM_006711386.4:c.1426+11T= XP_006711449.1:n.1426+11T=
XM_011509640.3:c.1426+11T= XP_011507942.1:n.1426+11T=
NM_181871.4:c.1525+11T= NP_870986.1:n.1525+11T=