Canonical Allele Identifier: CA2648266367
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290217T>G , CM000663.2:g.155290217T>G GRCh38
NC_000001.10:g.155260008T>G , CM000663.1:g.155260008T>G GRCh37
NC_000001.9:g.153526632T>G NCBI36
NG_011677.1:g.16218A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*355A>C MANE Select ENSP00000339933.4:n.*355A>C
ENST00000392414.7:c.*355A>C ENSP00000376214.3:n.*355A>C
NM_000298.5:c.*355A>C NP_000289.1:n.*355A>C
NM_181871.3:c.*355A>C NP_870986.1:n.*355A>C
NM_000298.6:c.*355A>C MANE Select NP_000289.1:n.*355A>C
NM_181871.4:c.*355A>C NP_870986.1:n.*355A>C