Canonical Allele Identifier: CA2648266371
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290223G>T , CM000663.2:g.155290223G>T GRCh38
NC_000001.10:g.155260014G>T , CM000663.1:g.155260014G>T GRCh37
NC_000001.9:g.153526638G>T NCBI36
NG_011677.1:g.16212C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*349C>A MANE Select ENSP00000339933.4:n.*349C>A
ENST00000392414.7:c.*349C>A ENSP00000376214.3:n.*349C>A
NM_000298.5:c.*349C>A NP_000289.1:n.*349C>A
NM_181871.3:c.*349C>A NP_870986.1:n.*349C>A
NM_000298.6:c.*349C>A MANE Select NP_000289.1:n.*349C>A
NM_181871.4:c.*349C>A NP_870986.1:n.*349C>A