Canonical Allele Identifier: CA215081

Gene: PKLR

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295555G>T , CM000663.2:g.155295555G>T	GRCh38
NC_000001.10:g.155265346G>T , CM000663.1:g.155265346G>T	GRCh37
NC_000001.9:g.153531970G>T	NCBI36
NG_011677.1:g.10880C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.389C>A MANE Select	ENSP00000339933.4:p.Ser130Tyr
ENST00000434082.3:c.197C>A	ENSP00000398037.3:p.Ser66Tyr
ENST00000342741.4:c.389C>A	ENSP00000339933.4:p.Ser130Tyr
ENST00000392414.7:c.296C>A	ENSP00000376214.3:p.Ser99Tyr
ENST00000434082.2:c.294C>A	ENSP00000398037.2:n.294C>A
NM_000298.5:c.389C>A	NP_000289.1:p.Ser130Tyr
NM_181871.3:c.296C>A	NP_870986.1:p.Ser99Tyr
XM_005245266.3:c.548C>A	XP_005245323.1:p.Ser183Tyr
XM_006711386.2:c.197C>A	XP_006711449.1:p.Ser66Tyr
XM_011509639.1:c.548C>A	XP_011507941.1:p.Ser183Tyr
XM_011509640.1:c.197C>A	XP_011507942.1:p.Ser66Tyr
NM_000298.6:c.389C>A MANE Select	NP_000289.1:p.Ser130Tyr
XM_006711386.4:c.197C>A	XP_006711449.1:p.Ser66Tyr
XM_011509640.3:c.197C>A	XP_011507942.1:p.Ser66Tyr
XM_017001493.1:c.389C>A	XP_016856982.1:p.Ser130Tyr
NM_181871.4:c.296C>A	NP_870986.1:p.Ser99Tyr