Canonical Allele Identifier: CA2648266260
Gene: PKLR HGNC NCBI

Linked Data

gnomAD v4: 1-155290080-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290080T>C , CM000663.2:g.155290080T>C GRCh38
NC_000001.10:g.155259871T>C , CM000663.1:g.155259871T>C GRCh37
NC_000001.9:g.153526495T>C NCBI36
NG_011677.1:g.16355A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*492A>G MANE Select ENSP00000339933.4:n.*492A>G
ENST00000392414.7:c.*492A>G ENSP00000376214.3:n.*492A>G
NM_000298.5:c.*492A>G NP_000289.1:n.*492A>G
NM_181871.3:c.*492A>G NP_870986.1:n.*492A>G
NM_000298.6:c.*492A>G MANE Select NP_000289.1:n.*492A>G
NM_181871.4:c.*492A>G NP_870986.1:n.*492A>G
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