Canonical Allele Identifier: CA2648267564

Gene: PKLR

Linked Data

• gnomAD v4: 1-155291710-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291710C>T , CM000663.2:g.155291710C>T	GRCh38
NC_000001.10:g.155261501C>T , CM000663.1:g.155261501C>T	GRCh37
NC_000001.9:g.153528125C>T	NCBI36
NG_011677.1:g.14725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1618+46G>A MANE Select	ENSP00000339933.4:n.1618+46G>A
ENST00000342741.4:c.1618+46G>A	ENSP00000339933.4:n.1618+46G>A
ENST00000392414.7:c.1525+46G>A	ENSP00000376214.3:n.1525+46G>A
NM_000298.5:c.1618+46G>A	NP_000289.1:n.1618+46G>A
NM_181871.3:c.1525+46G>A	NP_870986.1:n.1525+46G>A
XM_005245266.3:c.1777+46G>A	XP_005245323.1:n.1777+46G>A
XM_006711386.2:c.1426+46G>A	XP_006711449.1:n.1426+46G>A
XM_011509640.1:c.1426+46G>A	XP_011507942.1:n.1426+46G>A
NM_000298.6:c.1618+46G>A MANE Select	NP_000289.1:n.1618+46G>A
XM_006711386.4:c.1426+46G>A	XP_006711449.1:n.1426+46G>A
XM_011509640.3:c.1426+46G>A	XP_011507942.1:n.1426+46G>A
NM_181871.4:c.1525+46G>A	NP_870986.1:n.1525+46G>A