Canonical Allele Identifier: CA342755461

Gene: PKLR

Linked Data

• gnomAD v4: 1-155295456-C-T
• MyVariant Identifiers: chr1:g.155265247C>T (hg19) ; chr1:g.155295456C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295456C>T , CM000663.2:g.155295456C>T	GRCh38
NC_000001.10:g.155265247C>T , CM000663.1:g.155265247C>T	GRCh37
NC_000001.9:g.153531871C>T	NCBI36
NG_011677.1:g.10979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.488G>A MANE Select	ENSP00000339933.4:p.Arg163His
ENST00000434082.3:c.296G>A	ENSP00000398037.3:p.Arg99His
ENST00000342741.4:c.488G>A	ENSP00000339933.4:p.Arg163His
ENST00000392414.7:c.395G>A	ENSP00000376214.3:p.Arg132His
ENST00000434082.2:c.393G>A	ENSP00000398037.2:n.393G>A
NM_000298.5:c.488G>A	NP_000289.1:p.Arg163His
NM_181871.3:c.395G>A	NP_870986.1:p.Arg132His
XM_005245266.3:c.647G>A	XP_005245323.1:p.Arg216His
XM_006711386.2:c.296G>A	XP_006711449.1:p.Arg99His
XM_011509639.1:c.647G>A	XP_011507941.1:p.Arg216His
XM_011509640.1:c.296G>A	XP_011507942.1:p.Arg99His
NM_000298.6:c.488G>A MANE Select	NP_000289.1:p.Arg163His
XM_006711386.4:c.296G>A	XP_006711449.1:p.Arg99His
XM_011509640.3:c.296G>A	XP_011507942.1:p.Arg99His
XM_017001493.1:c.488G>A	XP_016856982.1:p.Arg163His
NM_181871.4:c.395G>A	NP_870986.1:p.Arg132His