Canonical Allele Identifier: CA342755920

Gene: PKLR

Linked Data

• ClinVar Variation Id: 811905
• ClinVar RCV Id: RCV001002382
• dbSNP Id: rs1572057410
• gnomAD v4: 1-155295564-T-C
• MyVariant Identifiers: chr1:g.155265355T>C (hg19) ; chr1:g.155295564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295564T>C , CM000663.2:g.155295564T>C	GRCh38
NC_000001.10:g.155265355T>C , CM000663.1:g.155265355T>C	GRCh37
NC_000001.9:g.153531979T>C	NCBI36
NG_011677.1:g.10871A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.380A>G MANE Select	ENSP00000339933.4:p.His127Arg
ENST00000434082.3:c.188A>G	ENSP00000398037.3:p.His63Arg
ENST00000342741.4:c.380A>G	ENSP00000339933.4:p.His127Arg
ENST00000392414.7:c.287A>G	ENSP00000376214.3:p.His96Arg
ENST00000434082.2:c.285A>G	ENSP00000398037.2:n.285A>G
NM_000298.5:c.380A>G	NP_000289.1:p.His127Arg
NM_181871.3:c.287A>G	NP_870986.1:p.His96Arg
XM_005245266.3:c.539A>G	XP_005245323.1:p.His180Arg
XM_006711386.2:c.188A>G	XP_006711449.1:p.His63Arg
XM_011509639.1:c.539A>G	XP_011507941.1:p.His180Arg
XM_011509640.1:c.188A>G	XP_011507942.1:p.His63Arg
NM_000298.6:c.380A>G MANE Select	NP_000289.1:p.His127Arg
XM_006711386.4:c.188A>G	XP_006711449.1:p.His63Arg
XM_011509640.3:c.188A>G	XP_011507942.1:p.His63Arg
XM_017001493.1:c.380A>G	XP_016856982.1:p.His127Arg
NM_181871.4:c.287A>G	NP_870986.1:p.His96Arg