Canonical Allele Identifier: CA421019281

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290608-G-C
• MyVariant Identifiers: chr1:g.155260399G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290608G>C , CM000663.2:g.155290608G>C	GRCh38
NC_000001.10:g.155260399G>C , CM000663.1:g.155260399G>C	GRCh37
NC_000001.9:g.153527023G>C	NCBI36
NG_011677.1:g.15827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1689C>G MANE Select	ENSP00000339933.4:p.Gly563=
ENST00000342741.4:c.1689C>G	ENSP00000339933.4:p.Gly563=
ENST00000392414.7:c.1596C>G	ENSP00000376214.3:p.Gly532=
NM_000298.5:c.1689C>G	NP_000289.1:p.Gly563=
NM_181871.3:c.1596C>G	NP_870986.1:p.Gly532=
XM_005245266.3:c.1848C>G	XP_005245323.1:p.Gly616=
XM_006711386.2:c.1497C>G	XP_006711449.1:p.Gly499=
XM_011509640.1:c.1497C>G	XP_011507942.1:p.Gly499=
NM_000298.6:c.1689C>G MANE Select	NP_000289.1:p.Gly563=
XM_006711386.4:c.1497C>G	XP_006711449.1:p.Gly499=
XM_011509640.3:c.1497C>G	XP_011507942.1:p.Gly499=
NM_181871.4:c.1596C>G	NP_870986.1:p.Gly532=