Canonical Allele Identifier: CA1144001
Gene: PKLR HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.155291986C>T
GRCh37 chr1:g.155261777C>T
gnomAD v2:
1:155261777 C / T
gnomAD v3:
1:155291986 C / T
gnomAD v4:
chr1-155291986-C-T
Joint Max Group AF 0.69831815 (EAS)
Genomes Max Group AF 0.66355898 (EAS)
Exomes Max Group AF 0.70083432 (EAS)
ClinVar RCV:
RCV001658640
ClinVar Variation:
1252339
dbSNP:
3762272
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155291986C>T , CM000663.2:g.155291986C>T GRCh38
NC_000001.10:g.155261777C>T , CM000663.1:g.155261777C>T GRCh37
NC_000001.9:g.153528401C>T NCBI36
NG_011677.1:g.14449G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.1437-49G>A MANE Select ENSP00000339933.4:n.1437-49G>A
ENST00000342741.4:c.1437-49G>A ENSP00000339933.4:n.1437-49G>A
ENST00000392414.7:c.1344-49G>A ENSP00000376214.3:n.1344-49G>A
NM_000298.5:c.1437-49G>A NP_000289.1:n.1437-49G>A
NM_181871.3:c.1344-49G>A NP_870986.1:n.1344-49G>A
XM_005245266.3:c.1596-49G>A XP_005245323.1:n.1596-49G>A
XM_006711386.2:c.1245-49G>A XP_006711449.1:n.1245-49G>A
XM_011509640.1:c.1245-49G>A XP_011507942.1:n.1245-49G>A
NM_000298.6:c.1437-49G>A MANE Select NP_000289.1:n.1437-49G>A
XM_006711386.4:c.1245-49G>A XP_006711449.1:n.1245-49G>A
XM_011509640.3:c.1245-49G>A XP_011507942.1:n.1245-49G>A
NM_181871.4:c.1344-49G>A NP_870986.1:n.1344-49G>A
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