Canonical Allele Identifier: CA1143906

Gene: PKLR

Linked Data

• dbSNP Id: rs775724792
• ExAC: 1:155260343 C / T
• gnomAD v2: 1-155260343-C-T
• gnomAD v4: 1-155290552-C-T
• MyVariant Identifiers: chr1:g.155260343C>T (hg19) ; chr1:g.155290552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290552C>T , CM000663.2:g.155290552C>T	GRCh38
NC_000001.10:g.155260343C>T , CM000663.1:g.155260343C>T	GRCh37
NC_000001.9:g.153526967C>T	NCBI36
NG_011677.1:g.15883G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*20G>A MANE Select	ENSP00000339933.4:n.*20G>A
ENST00000342741.4:c.*20G>A	ENSP00000339933.4:n.*20G>A
ENST00000392414.7:c.*20G>A	ENSP00000376214.3:n.*20G>A
NM_000298.5:c.*20G>A	NP_000289.1:n.*20G>A
NM_181871.3:c.*20G>A	NP_870986.1:n.*20G>A
XM_005245266.3:c.*20G>A	XP_005245323.1:n.*20G>A
XM_006711386.2:c.*20G>A	XP_006711449.1:n.*20G>A
XM_011509640.1:c.*20G>A	XP_011507942.1:n.*20G>A
NM_000298.6:c.*20G>A MANE Select	NP_000289.1:n.*20G>A
XM_006711386.4:c.*20G>A	XP_006711449.1:n.*20G>A
XM_011509640.3:c.*20G>A	XP_011507942.1:n.*20G>A
NM_181871.4:c.*20G>A	NP_870986.1:n.*20G>A