Canonical Allele Identifier: CA342748120
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290583T>C , CM000663.2:g.155290583T>C GRCh38
NC_000001.10:g.155260374T>C , CM000663.1:g.155260374T>C GRCh37
NC_000001.9:g.153526998T>C NCBI36
NG_011677.1:g.15852A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.1714A>G MANE Select ENSP00000339933.4:p.Ser572Gly
ENST00000342741.4:c.1714A>G ENSP00000339933.4:p.Ser572Gly
ENST00000392414.7:c.1621A>G ENSP00000376214.3:p.Ser541Gly
NM_000298.5:c.1714A>G NP_000289.1:p.Ser572Gly
NM_181871.3:c.1621A>G NP_870986.1:p.Ser541Gly
XM_005245266.3:c.1873A>G XP_005245323.1:p.Ser625Gly
XM_006711386.2:c.1522A>G XP_006711449.1:p.Ser508Gly
XM_011509640.1:c.1522A>G XP_011507942.1:p.Ser508Gly
NM_000298.6:c.1714A>G MANE Select NP_000289.1:p.Ser572Gly
XM_006711386.4:c.1522A>G XP_006711449.1:p.Ser508Gly
XM_011509640.3:c.1522A>G XP_011507942.1:p.Ser508Gly
NM_181871.4:c.1621A>G NP_870986.1:p.Ser541Gly