Canonical Allele Identifier: CA342754430

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294660-C-G
• MyVariant Identifiers: chr1:g.155264451C>G (hg19) ; chr1:g.155294660C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294660C>G , CM000663.2:g.155294660C>G	GRCh38
NC_000001.10:g.155264451C>G , CM000663.1:g.155264451C>G	GRCh37
NC_000001.9:g.153531075C>G	NCBI36
NG_011677.1:g.11775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.787G>C MANE Select	ENSP00000339933.4:p.Gly263Arg
ENST00000342741.4:c.787G>C	ENSP00000339933.4:p.Gly263Arg
ENST00000392414.7:c.694G>C	ENSP00000376214.3:p.Gly232Arg
NM_000298.5:c.787G>C	NP_000289.1:p.Gly263Arg
NM_181871.3:c.694G>C	NP_870986.1:p.Gly232Arg
XM_005245266.3:c.946G>C	XP_005245323.1:p.Gly316Arg
XM_006711386.2:c.595G>C	XP_006711449.1:p.Gly199Arg
XM_011509639.1:c.946G>C	XP_011507941.1:p.Gly316Arg
XM_011509640.1:c.595G>C	XP_011507942.1:p.Gly199Arg
NM_000298.6:c.787G>C MANE Select	NP_000289.1:p.Gly263Arg
XM_006711386.4:c.595G>C	XP_006711449.1:p.Gly199Arg
XM_011509640.3:c.595G>C	XP_011507942.1:p.Gly199Arg
XM_017001493.1:c.787G>C	XP_016856982.1:p.Gly263Arg
NM_181871.4:c.694G>C	NP_870986.1:p.Gly232Arg