Canonical Allele Identifier: CA2648266338
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290181G>C , CM000663.2:g.155290181G>C GRCh38
NC_000001.10:g.155259972G>C , CM000663.1:g.155259972G>C GRCh37
NC_000001.9:g.153526596G>C NCBI36
NG_011677.1:g.16254C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*391C>G MANE Select ENSP00000339933.4:n.*391C>G
ENST00000392414.7:c.*391C>G ENSP00000376214.3:n.*391C>G
NM_000298.5:c.*391C>G NP_000289.1:n.*391C>G
NM_181871.3:c.*391C>G NP_870986.1:n.*391C>G
NM_000298.6:c.*391C>G MANE Select NP_000289.1:n.*391C>G
NM_181871.4:c.*391C>G NP_870986.1:n.*391C>G