Canonical Allele Identifier: CA342751233

Gene: PKLR

Linked Data

• dbSNP Id: rs1451331645
• gnomAD v3: 1-155291885-T-A
• gnomAD v4: 1-155291885-T-A
• MyVariant Identifiers: chr1:g.155261676T>A (hg19) ; chr1:g.155291885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291885T>A , CM000663.2:g.155291885T>A	GRCh38
NC_000001.10:g.155261676T>A , CM000663.1:g.155261676T>A	GRCh37
NC_000001.9:g.153528300T>A	NCBI36
NG_011677.1:g.14550A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1489A>T MANE Select	ENSP00000339933.4:p.Thr497Ser
ENST00000342741.4:c.1489A>T	ENSP00000339933.4:p.Thr497Ser
ENST00000392414.7:c.1396A>T	ENSP00000376214.3:p.Thr466Ser
NM_000298.5:c.1489A>T	NP_000289.1:p.Thr497Ser
NM_181871.3:c.1396A>T	NP_870986.1:p.Thr466Ser
XM_005245266.3:c.1648A>T	XP_005245323.1:p.Thr550Ser
XM_006711386.2:c.1297A>T	XP_006711449.1:p.Thr433Ser
XM_011509640.1:c.1297A>T	XP_011507942.1:p.Thr433Ser
NM_000298.6:c.1489A>T MANE Select	NP_000289.1:p.Thr497Ser
XM_006711386.4:c.1297A>T	XP_006711449.1:p.Thr433Ser
XM_011509640.3:c.1297A>T	XP_011507942.1:p.Thr433Ser
NM_181871.4:c.1396A>T	NP_870986.1:p.Thr466Ser