Canonical Allele Identifier: CA2648266380
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290228G>A , CM000663.2:g.155290228G>A GRCh38
NC_000001.10:g.155260019G>A , CM000663.1:g.155260019G>A GRCh37
NC_000001.9:g.153526643G>A NCBI36
NG_011677.1:g.16207C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*344C>T MANE Select ENSP00000339933.4:n.*344C>T
ENST00000392414.7:c.*344C>T ENSP00000376214.3:n.*344C>T
NM_000298.5:c.*344C>T NP_000289.1:n.*344C>T
NM_181871.3:c.*344C>T NP_870986.1:n.*344C>T
NM_000298.6:c.*344C>T MANE Select NP_000289.1:n.*344C>T
NM_181871.4:c.*344C>T NP_870986.1:n.*344C>T