Canonical Allele Identifier: CA1144178

Gene: PKLR

Linked Data

• ClinVar Variation Id: 292810
• ClinVar RCV Id: RCV000369340 ; RCV003480579
• dbSNP Id: rs141571402
• ExAC: 1:155264320 G / T
• gnomAD v2: 1-155264320-G-T
• gnomAD v3: 1-155294529-G-T
• gnomAD v4: 1-155294529-G-T
• MyVariant Identifiers: chr1:g.155264320G>T (hg19) ; chr1:g.155294529G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294529G>T , CM000663.2:g.155294529G>T	GRCh38
NC_000001.10:g.155264320G>T , CM000663.1:g.155264320G>T	GRCh37
NC_000001.9:g.153530944G>T	NCBI36
NG_011677.1:g.11906C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.918C>A MANE Select	ENSP00000339933.4:p.His306Gln
ENST00000342741.4:c.918C>A	ENSP00000339933.4:p.His306Gln
ENST00000392414.7:c.825C>A	ENSP00000376214.3:p.His275Gln
NM_000298.5:c.918C>A	NP_000289.1:p.His306Gln
NM_181871.3:c.825C>A	NP_870986.1:p.His275Gln
XM_005245266.3:c.1077C>A	XP_005245323.1:p.His359Gln
XM_006711386.2:c.726C>A	XP_006711449.1:p.His242Gln
XM_011509639.1:c.1077C>A	XP_011507941.1:p.His359Gln
XM_011509640.1:c.726C>A	XP_011507942.1:p.His242Gln
NM_000298.6:c.918C>A MANE Select	NP_000289.1:p.His306Gln
XM_006711386.4:c.726C>A	XP_006711449.1:p.His242Gln
XM_011509640.3:c.726C>A	XP_011507942.1:p.His242Gln
XM_017001493.1:c.918C>A	XP_016856982.1:p.His306Gln
NM_181871.4:c.825C>A	NP_870986.1:p.His275Gln