Canonical Allele Identifier: CA1144515
Gene: PKLR HGNC NCBI
ClinVar RCV:
RCV000405950
RCV003556309
ClinVar Variation:
292821
COSMIC:
COSM4023004
dbSNP:
139697646
gnomAD v2:
1:155271181 C / T
gnomAD v3:
1:155301390 C / T
gnomAD v4:
chr1-155301390-C-T
Joint Max Group AF 0.00048046 (NFE)
Genomes Max Group AF 0.00035411 (NFE)
Exomes Max Group AF 0.00048109 (NFE)
MyVariant.info:
GRCh38 chr1:g.155301390C>T
GRCh37 chr1:g.155271181C>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155301390C>T , CM000663.2:g.155301390C>T GRCh38
NC_000001.10:g.155271181C>T , CM000663.1:g.155271181C>T GRCh37
NC_000001.9:g.153537805C>T NCBI36
NG_011677.1:g.5045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.6G>A MANE Select ENSP00000339933.4:p.Ser2=
ENST00000342741.4:c.6G>A ENSP00000339933.4:p.Ser2=
NM_000298.5:c.6G>A NP_000289.1:p.Ser2=
XM_005245266.3:c.165G>A XP_005245323.1:p.Ser55=
XM_011509639.1:c.165G>A XP_011507941.1:p.Ser55=
NM_000298.6:c.6G>A MANE Select NP_000289.1:p.Ser2=
XM_017001493.1:c.6G>A XP_016856982.1:p.Ser2=
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