Canonical Allele Identifier: CA30908903
Gene: PKLR HGNC NCBI
COSMIC:
COSN19629439 (not active)
COSN19643156 (not active)
MyVariant.info:
GRCh38 chr1:g.155299985A>G
GRCh37 chr1:g.155269776A>G
gnomAD v2:
1:155269776 A / G
gnomAD v3:
1:155299985 A / G
gnomAD v4:
chr1-155299985-A-G
Joint Max Group AF 0.71667769 (EAS)
Genomes Max Group AF 0.68289263 (EAS)
Exomes Max Group AF 0.71921482 (EAS)
ClinVar RCV:
RCV001635543
ClinVar Variation:
1237051
dbSNP:
3020781
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155299985A>G , CM000663.2:g.155299985A>G GRCh38
NC_000001.10:g.155269776A>G , CM000663.1:g.155269776A>G GRCh37
NC_000001.9:g.153536400A>G NCBI36
NG_011677.1:g.6450T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.283+113T>C MANE Select ENSP00000339933.4:n.283+113T>C
ENST00000434082.3:c.91+113T>C ENSP00000398037.3:n.91+113T>C
ENST00000342741.4:c.283+113T>C ENSP00000339933.4:n.283+113T>C
ENST00000392414.7:c.190+113T>C ENSP00000376214.3:n.190+113T>C
ENST00000434082.2:c.188+113T>C ENSP00000398037.2:n.188+113T>C
NM_000298.5:c.283+113T>C NP_000289.1:n.283+113T>C
NM_181871.3:c.190+113T>C NP_870986.1:n.190+113T>C
XM_005245266.3:c.442+113T>C XP_005245323.1:n.442+113T>C
XM_006711386.2:c.91+113T>C XP_006711449.1:n.91+113T>C
XM_011509639.1:c.442+113T>C XP_011507941.1:n.442+113T>C
XM_011509640.1:c.91+113T>C XP_011507942.1:n.91+113T>C
NM_000298.6:c.283+113T>C MANE Select NP_000289.1:n.283+113T>C
XM_006711386.4:c.91+113T>C XP_006711449.1:n.91+113T>C
XM_011509640.3:c.91+113T>C XP_011507942.1:n.91+113T>C
XM_017001493.1:c.283+113T>C XP_016856982.1:n.283+113T>C
NM_181871.4:c.190+113T>C NP_870986.1:n.190+113T>C
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