Canonical Allele Identifier: CA1200112129

Gene: PKLR

Linked Data

• dbSNP Id: rs1647422985

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294406A>C , CM000663.2:g.155294406A>C	GRCh38
NC_000001.10:g.155264197A>C , CM000663.1:g.155264197A>C	GRCh37
NC_000001.9:g.153530821A>C	NCBI36
NG_011677.1:g.12029T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.966-21T>G MANE Select	ENSP00000339933.4:n.966-21T>G
ENST00000342741.4:c.966-21T>G	ENSP00000339933.4:n.966-21T>G
ENST00000392414.7:c.873-21T>G	ENSP00000376214.3:n.873-21T>G
NM_000298.5:c.966-21T>G	NP_000289.1:n.966-21T>G
NM_181871.3:c.873-21T>G	NP_870986.1:n.873-21T>G
XM_005245266.3:c.1125-21T>G	XP_005245323.1:n.1125-21T>G
XM_006711386.2:c.774-21T>G	XP_006711449.1:n.774-21T>G
XM_011509639.1:c.1125-21T>G	XP_011507941.1:n.1125-21T>G
XM_011509640.1:c.774-21T>G	XP_011507942.1:n.774-21T>G
NM_000298.6:c.966-21T>G MANE Select	NP_000289.1:n.966-21T>G
XM_006711386.4:c.774-21T>G	XP_006711449.1:n.774-21T>G
XM_011509640.3:c.774-21T>G	XP_011507942.1:n.774-21T>G
XM_017001493.1:c.966-21T>G	XP_016856982.1:n.966-21T>G
NM_181871.4:c.873-21T>G	NP_870986.1:n.873-21T>G