Canonical Allele Identifier: CA2481224609
Gene: PKLR HGNC NCBI

Linked Data

dbSNP Id: rs1674462515
gnomAD v4: 1-155290053-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290053C>G , CM000663.2:g.155290053C>G GRCh38
NC_000001.10:g.155259844C>G , CM000663.1:g.155259844C>G GRCh37
NC_000001.9:g.153526468C>G NCBI36
NG_011677.1:g.16382G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*519G>C MANE Select ENSP00000339933.4:n.*519G>C
ENST00000392414.7:c.*519G>C ENSP00000376214.3:n.*519G>C
NM_000298.5:c.*519G>C NP_000289.1:n.*519G>C
NM_181871.3:c.*519G>C NP_870986.1:n.*519G>C
NM_000298.6:c.*519G>C MANE Select NP_000289.1:n.*519G>C
NM_181871.4:c.*519G>C NP_870986.1:n.*519G>C
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