Canonical Allele Identifier: CA1148427300
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290156T= , CM000663.2:g.155290156T= GRCh38
NC_000001.10:g.155259947T= , CM000663.1:g.155259947T= GRCh37
NC_000001.9:g.153526571T= NCBI36
NG_011677.1:g.16279A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*416A= MANE Select ENSP00000339933.4:n.*416A=
ENST00000392414.7:c.*416A= ENSP00000376214.3:n.*416A=
NM_000298.5:c.*416A= NP_000289.1:n.*416A=
NM_181871.3:c.*416A= NP_870986.1:n.*416A=
NM_000298.6:c.*416A= MANE Select NP_000289.1:n.*416A=
NM_181871.4:c.*416A= NP_870986.1:n.*416A=