Canonical Allele Identifier: CA2648266254
Gene: PKLR HGNC NCBI

Linked Data

gnomAD v4: 1-155290069-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290069A>G , CM000663.2:g.155290069A>G GRCh38
NC_000001.10:g.155259860A>G , CM000663.1:g.155259860A>G GRCh37
NC_000001.9:g.153526484A>G NCBI36
NG_011677.1:g.16366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*503T>C MANE Select ENSP00000339933.4:n.*503T>C
ENST00000392414.7:c.*503T>C ENSP00000376214.3:n.*503T>C
NM_000298.5:c.*503T>C NP_000289.1:n.*503T>C
NM_181871.3:c.*503T>C NP_870986.1:n.*503T>C
NM_000298.6:c.*503T>C MANE Select NP_000289.1:n.*503T>C
NM_181871.4:c.*503T>C NP_870986.1:n.*503T>C
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