Canonical Allele Identifier: CA421245822

Gene: PKLR

Linked Data

• dbSNP Id: rs755258394
• gnomAD v4: 1-155295512-G-T
• MyVariant Identifiers: chr1:g.155265303G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295512G>T , CM000663.2:g.155295512G>T	GRCh38
NC_000001.10:g.155265303G>T , CM000663.1:g.155265303G>T	GRCh37
NC_000001.9:g.153531927G>T	NCBI36
NG_011677.1:g.10923C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.432C>A MANE Select	ENSP00000339933.4:p.Ser144=
ENST00000434082.3:c.240C>A	ENSP00000398037.3:p.Ser80=
ENST00000342741.4:c.432C>A	ENSP00000339933.4:p.Ser144=
ENST00000392414.7:c.339C>A	ENSP00000376214.3:p.Ser113=
ENST00000434082.2:c.337C>A	ENSP00000398037.2:n.337C>A
NM_000298.5:c.432C>A	NP_000289.1:p.Ser144=
NM_181871.3:c.339C>A	NP_870986.1:p.Ser113=
XM_005245266.3:c.591C>A	XP_005245323.1:p.Ser197=
XM_006711386.2:c.240C>A	XP_006711449.1:p.Ser80=
XM_011509639.1:c.591C>A	XP_011507941.1:p.Ser197=
XM_011509640.1:c.240C>A	XP_011507942.1:p.Ser80=
NM_000298.6:c.432C>A MANE Select	NP_000289.1:p.Ser144=
XM_006711386.4:c.240C>A	XP_006711449.1:p.Ser80=
XM_011509640.3:c.240C>A	XP_011507942.1:p.Ser80=
XM_017001493.1:c.432C>A	XP_016856982.1:p.Ser144=
NM_181871.4:c.339C>A	NP_870986.1:p.Ser113=