Canonical Allele Identifier: CA30899080

Gene: PKLR

Linked Data

• dbSNP Id: rs1024527015
• MyVariant Identifiers: chr1:g.155259978C>T (hg19) ; chr1:g.155290187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290187C>T , CM000663.2:g.155290187C>T	GRCh38
NC_000001.10:g.155259978C>T , CM000663.1:g.155259978C>T	GRCh37
NC_000001.9:g.153526602C>T	NCBI36
NG_011677.1:g.16248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*385G>A MANE Select	ENSP00000339933.4:n.*385G>A
ENST00000392414.7:c.*385G>A	ENSP00000376214.3:n.*385G>A
NM_000298.5:c.*385G>A	NP_000289.1:n.*385G>A
NM_181871.3:c.*385G>A	NP_870986.1:n.*385G>A
NM_000298.6:c.*385G>A MANE Select	NP_000289.1:n.*385G>A
NM_181871.4:c.*385G>A	NP_870986.1:n.*385G>A