Canonical Allele Identifier: CA2648266247
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290063T>G , CM000663.2:g.155290063T>G GRCh38
NC_000001.10:g.155259854T>G , CM000663.1:g.155259854T>G GRCh37
NC_000001.9:g.153526478T>G NCBI36
NG_011677.1:g.16372A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*509A>C MANE Select ENSP00000339933.4:n.*509A>C
ENST00000392414.7:c.*509A>C ENSP00000376214.3:n.*509A>C
NM_000298.5:c.*509A>C NP_000289.1:n.*509A>C
NM_181871.3:c.*509A>C NP_870986.1:n.*509A>C
NM_000298.6:c.*509A>C MANE Select NP_000289.1:n.*509A>C
NM_181871.4:c.*509A>C NP_870986.1:n.*509A>C