Canonical Allele Identifier: CA421245770

Gene: PKLR

Linked Data

• MyVariant Identifiers: chr1:g.155264485G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294694G>C , CM000663.2:g.155294694G>C	GRCh38
NC_000001.10:g.155264485G>C , CM000663.1:g.155264485G>C	GRCh37
NC_000001.9:g.153531109G>C	NCBI36
NG_011677.1:g.11741C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.753C>G MANE Select	ENSP00000339933.4:p.Gly251=
ENST00000342741.4:c.753C>G	ENSP00000339933.4:p.Gly251=
ENST00000392414.7:c.660C>G	ENSP00000376214.3:p.Gly220=
NM_000298.5:c.753C>G	NP_000289.1:p.Gly251=
NM_181871.3:c.660C>G	NP_870986.1:p.Gly220=
XM_005245266.3:c.912C>G	XP_005245323.1:p.Gly304=
XM_006711386.2:c.561C>G	XP_006711449.1:p.Gly187=
XM_011509639.1:c.912C>G	XP_011507941.1:p.Gly304=
XM_011509640.1:c.561C>G	XP_011507942.1:p.Gly187=
NM_000298.6:c.753C>G MANE Select	NP_000289.1:p.Gly251=
XM_006711386.4:c.561C>G	XP_006711449.1:p.Gly187=
XM_011509640.3:c.561C>G	XP_011507942.1:p.Gly187=
XM_017001493.1:c.753C>G	XP_016856982.1:p.Gly251=
NM_181871.4:c.660C>G	NP_870986.1:p.Gly220=