Canonical Allele Identifier: CA2648266231
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290050A>G , CM000663.2:g.155290050A>G GRCh38
NC_000001.10:g.155259841A>G , CM000663.1:g.155259841A>G GRCh37
NC_000001.9:g.153526465A>G NCBI36
NG_011677.1:g.16385T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*522T>C MANE Select ENSP00000339933.4:n.*522T>C
ENST00000392414.7:c.*522T>C ENSP00000376214.3:n.*522T>C
NM_000298.5:c.*522T>C NP_000289.1:n.*522T>C
NM_181871.3:c.*522T>C NP_870986.1:n.*522T>C
NM_000298.6:c.*522T>C MANE Select NP_000289.1:n.*522T>C
NM_181871.4:c.*522T>C NP_870986.1:n.*522T>C