Canonical Allele Identifier: CA2648266448

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290292-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290292A>C , CM000663.2:g.155290292A>C	GRCh38
NC_000001.10:g.155260083A>C , CM000663.1:g.155260083A>C	GRCh37
NC_000001.9:g.153526707A>C	NCBI36
NG_011677.1:g.16143T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*280T>G MANE Select	ENSP00000339933.4:n.*280T>G
ENST00000342741.4:c.*280T>G	ENSP00000339933.4:n.*280T>G
ENST00000392414.7:c.*280T>G	ENSP00000376214.3:n.*280T>G
NM_000298.5:c.*280T>G	NP_000289.1:n.*280T>G
NM_181871.3:c.*280T>G	NP_870986.1:n.*280T>G
XM_005245266.3:c.*280T>G	XP_005245323.1:n.*280T>G
XM_006711386.2:c.*280T>G	XP_006711449.1:n.*280T>G
XM_011509640.1:c.*280T>G	XP_011507942.1:n.*280T>G
NM_000298.6:c.*280T>G MANE Select	NP_000289.1:n.*280T>G
XM_006711386.4:c.*280T>G	XP_006711449.1:n.*280T>G
XM_011509640.3:c.*280T>G	XP_011507942.1:n.*280T>G
NM_181871.4:c.*280T>G	NP_870986.1:n.*280T>G