Canonical Allele Identifier: CA2481224691
Gene: PKLR HGNC NCBI

Linked Data

dbSNP Id: rs1674472403

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290255G>C , CM000663.2:g.155290255G>C GRCh38
NC_000001.10:g.155260046G>C , CM000663.1:g.155260046G>C GRCh37
NC_000001.9:g.153526670G>C NCBI36
NG_011677.1:g.16180C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*317C>G MANE Select ENSP00000339933.4:n.*317C>G
ENST00000342741.4:c.*317C>G ENSP00000339933.4:n.*317C>G
ENST00000392414.7:c.*317C>G ENSP00000376214.3:n.*317C>G
NM_000298.5:c.*317C>G NP_000289.1:n.*317C>G
NM_181871.3:c.*317C>G NP_870986.1:n.*317C>G
XM_005245266.3:c.*317C>G XP_005245323.1:n.*317C>G
NM_000298.6:c.*317C>G MANE Select NP_000289.1:n.*317C>G
NM_181871.4:c.*317C>G NP_870986.1:n.*317C>G