Canonical Allele Identifier: CA342754425

Gene: PKLR

Linked Data

• dbSNP Id: rs867384868
• gnomAD v2: 1-155264450-C-G
• gnomAD v4: 1-155294659-C-G
• MyVariant Identifiers: chr1:g.155264450C>G (hg19) ; chr1:g.155294659C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294659C>G , CM000663.2:g.155294659C>G	GRCh38
NC_000001.10:g.155264450C>G , CM000663.1:g.155264450C>G	GRCh37
NC_000001.9:g.153531074C>G	NCBI36
NG_011677.1:g.11776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.788G>C MANE Select	ENSP00000339933.4:p.Gly263Ala
ENST00000342741.4:c.788G>C	ENSP00000339933.4:p.Gly263Ala
ENST00000392414.7:c.695G>C	ENSP00000376214.3:p.Gly232Ala
NM_000298.5:c.788G>C	NP_000289.1:p.Gly263Ala
NM_181871.3:c.695G>C	NP_870986.1:p.Gly232Ala
XM_005245266.3:c.947G>C	XP_005245323.1:p.Gly316Ala
XM_006711386.2:c.596G>C	XP_006711449.1:p.Gly199Ala
XM_011509639.1:c.947G>C	XP_011507941.1:p.Gly316Ala
XM_011509640.1:c.596G>C	XP_011507942.1:p.Gly199Ala
NM_000298.6:c.788G>C MANE Select	NP_000289.1:p.Gly263Ala
XM_006711386.4:c.596G>C	XP_006711449.1:p.Gly199Ala
XM_011509640.3:c.596G>C	XP_011507942.1:p.Gly199Ala
XM_017001493.1:c.788G>C	XP_016856982.1:p.Gly263Ala
NM_181871.4:c.695G>C	NP_870986.1:p.Gly232Ala