Canonical Allele Identifier: CA2648266344

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290190-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290190G>A , CM000663.2:g.155290190G>A	GRCh38
NC_000001.10:g.155259981G>A , CM000663.1:g.155259981G>A	GRCh37
NC_000001.9:g.153526605G>A	NCBI36
NG_011677.1:g.16245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*382C>T MANE Select	ENSP00000339933.4:n.*382C>T
ENST00000392414.7:c.*382C>T	ENSP00000376214.3:n.*382C>T
NM_000298.5:c.*382C>T	NP_000289.1:n.*382C>T
NM_181871.3:c.*382C>T	NP_870986.1:n.*382C>T
NM_000298.6:c.*382C>T MANE Select	NP_000289.1:n.*382C>T
NM_181871.4:c.*382C>T	NP_870986.1:n.*382C>T