Canonical Allele Identifier: CA1200112684
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155295577G= , CM000663.2:g.155295577G= GRCh38
NC_000001.10:g.155265368G= , CM000663.1:g.155265368G= GRCh37
NC_000001.9:g.153531992G= NCBI36
NG_011677.1:g.10858C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.376-9C= MANE Select ENSP00000339933.4:n.376-9C=
ENST00000434082.3:c.184-9C= ENSP00000398037.3:n.184-9C=
ENST00000342741.4:c.376-9C= ENSP00000339933.4:n.376-9C=
ENST00000392414.7:c.283-9C= ENSP00000376214.3:n.283-9C=
ENST00000434082.2:c.281-9C= ENSP00000398037.2:n.281-9C=
NM_000298.5:c.376-9C= NP_000289.1:n.376-9C=
NM_181871.3:c.283-9C= NP_870986.1:n.283-9C=
XM_005245266.3:c.535-9C= XP_005245323.1:n.535-9C=
XM_006711386.2:c.184-9C= XP_006711449.1:n.184-9C=
XM_011509639.1:c.535-9C= XP_011507941.1:n.535-9C=
XM_011509640.1:c.184-9C= XP_011507942.1:n.184-9C=
NM_000298.6:c.376-9C= MANE Select NP_000289.1:n.376-9C=
XM_006711386.4:c.184-9C= XP_006711449.1:n.184-9C=
XM_011509640.3:c.184-9C= XP_011507942.1:n.184-9C=
XM_017001493.1:c.376-9C= XP_016856982.1:n.376-9C=
NM_181871.4:c.283-9C= NP_870986.1:n.283-9C=