Canonical Allele Identifier: CA1143969

Gene: PKLR

Linked Data

• ClinVar Variation Id: 2689764
• ClinVar RCV Id: RCV003488264
• dbSNP Id: rs771218326
• ExAC: 1:155261612 C / T
• gnomAD v3: 1-155291821-C-T
• gnomAD v4: 1-155291821-C-T
• MyVariant Identifiers: chr1:g.155261612C>T (hg19) ; chr1:g.155291821C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291821C>T , CM000663.2:g.155291821C>T	GRCh38
NC_000001.10:g.155261612C>T , CM000663.1:g.155261612C>T	GRCh37
NC_000001.9:g.153528236C>T	NCBI36
NG_011677.1:g.14614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1553G>A MANE Select	ENSP00000339933.4:p.Arg518His
ENST00000342741.4:c.1553G>A	ENSP00000339933.4:p.Arg518His
ENST00000392414.7:c.1460G>A	ENSP00000376214.3:p.Arg487His
NM_000298.5:c.1553G>A	NP_000289.1:p.Arg518His
NM_181871.3:c.1460G>A	NP_870986.1:p.Arg487His
XM_005245266.3:c.1712G>A	XP_005245323.1:p.Arg571His
XM_006711386.2:c.1361G>A	XP_006711449.1:p.Arg454His
XM_011509640.1:c.1361G>A	XP_011507942.1:p.Arg454His
NM_000298.6:c.1553G>A MANE Select	NP_000289.1:p.Arg518His
XM_006711386.4:c.1361G>A	XP_006711449.1:p.Arg454His
XM_011509640.3:c.1361G>A	XP_011507942.1:p.Arg454His
NM_181871.4:c.1460G>A	NP_870986.1:p.Arg487His