Canonical Allele Identifier: CA1007991229

Gene: PKLR

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155299985A>T , CM000663.2:g.155299985A>T	GRCh38
NC_000001.10:g.155269776A>T , CM000663.1:g.155269776A>T	GRCh37
NC_000001.9:g.153536400A>T	NCBI36
NG_011677.1:g.6450T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.283+113T>A MANE Select	ENSP00000339933.4:n.283+113T>A
ENST00000434082.3:c.91+113T>A	ENSP00000398037.3:n.91+113T>A
ENST00000342741.4:c.283+113T>A	ENSP00000339933.4:n.283+113T>A
ENST00000392414.7:c.190+113T>A	ENSP00000376214.3:n.190+113T>A
ENST00000434082.2:c.188+113T>A	ENSP00000398037.2:n.188+113T>A
NM_000298.5:c.283+113T>A	NP_000289.1:n.283+113T>A
NM_181871.3:c.190+113T>A	NP_870986.1:n.190+113T>A
XM_005245266.3:c.442+113T>A	XP_005245323.1:n.442+113T>A
XM_006711386.2:c.91+113T>A	XP_006711449.1:n.91+113T>A
XM_011509639.1:c.442+113T>A	XP_011507941.1:n.442+113T>A
XM_011509640.1:c.91+113T>A	XP_011507942.1:n.91+113T>A
NM_000298.6:c.283+113T>A MANE Select	NP_000289.1:n.283+113T>A
XM_006711386.4:c.91+113T>A	XP_006711449.1:n.91+113T>A
XM_011509640.3:c.91+113T>A	XP_011507942.1:n.91+113T>A
XM_017001493.1:c.283+113T>A	XP_016856982.1:n.283+113T>A
NM_181871.4:c.190+113T>A	NP_870986.1:n.190+113T>A