Canonical Allele Identifier: CA2648266514
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290321G>T , CM000663.2:g.155290321G>T GRCh38
NC_000001.10:g.155260112G>T , CM000663.1:g.155260112G>T GRCh37
NC_000001.9:g.153526736G>T NCBI36
NG_011677.1:g.16114C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*251C>A MANE Select ENSP00000339933.4:n.*251C>A
ENST00000342741.4:c.*251C>A ENSP00000339933.4:n.*251C>A
ENST00000392414.7:c.*251C>A ENSP00000376214.3:n.*251C>A
NM_000298.5:c.*251C>A NP_000289.1:n.*251C>A
NM_181871.3:c.*251C>A NP_870986.1:n.*251C>A
XM_005245266.3:c.*251C>A XP_005245323.1:n.*251C>A
XM_006711386.2:c.*251C>A XP_006711449.1:n.*251C>A
XM_011509640.1:c.*251C>A XP_011507942.1:n.*251C>A
NM_000298.6:c.*251C>A MANE Select NP_000289.1:n.*251C>A
XM_006711386.4:c.*251C>A XP_006711449.1:n.*251C>A
XM_011509640.3:c.*251C>A XP_011507942.1:n.*251C>A
NM_181871.4:c.*251C>A NP_870986.1:n.*251C>A