Canonical Allele Identifier: CA2648266319
Gene: PKLR HGNC NCBI

Linked Data

gnomAD v4: 1-155290150-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290150G>T , CM000663.2:g.155290150G>T GRCh38
NC_000001.10:g.155259941G>T , CM000663.1:g.155259941G>T GRCh37
NC_000001.9:g.153526565G>T NCBI36
NG_011677.1:g.16285C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*422C>A MANE Select ENSP00000339933.4:n.*422C>A
ENST00000392414.7:c.*422C>A ENSP00000376214.3:n.*422C>A
NM_000298.5:c.*422C>A NP_000289.1:n.*422C>A
NM_181871.3:c.*422C>A NP_870986.1:n.*422C>A
NM_000298.6:c.*422C>A MANE Select NP_000289.1:n.*422C>A
NM_181871.4:c.*422C>A NP_870986.1:n.*422C>A
Search 100 bp 5'
Search 100 bp 3'