Canonical Allele Identifier: CA30900403

Gene: PKLR

Linked Data

• dbSNP Id: rs773040738
• gnomAD v3: 1-155291932-G-T
• gnomAD v4: 1-155291932-G-T
• MyVariant Identifiers: chr1:g.155261723G>T (hg19) ; chr1:g.155291932G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291932G>T , CM000663.2:g.155291932G>T	GRCh38
NC_000001.10:g.155261723G>T , CM000663.1:g.155261723G>T	GRCh37
NC_000001.9:g.153528347G>T	NCBI36
NG_011677.1:g.14503C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1442C>A MANE Select	ENSP00000339933.4:p.Ala481Asp
ENST00000342741.4:c.1442C>A	ENSP00000339933.4:p.Ala481Asp
ENST00000392414.7:c.1349C>A	ENSP00000376214.3:p.Ala450Asp
NM_000298.5:c.1442C>A	NP_000289.1:p.Ala481Asp
NM_181871.3:c.1349C>A	NP_870986.1:p.Ala450Asp
XM_005245266.3:c.1601C>A	XP_005245323.1:p.Ala534Asp
XM_006711386.2:c.1250C>A	XP_006711449.1:p.Ala417Asp
XM_011509640.1:c.1250C>A	XP_011507942.1:p.Ala417Asp
NM_000298.6:c.1442C>A MANE Select	NP_000289.1:p.Ala481Asp
XM_006711386.4:c.1250C>A	XP_006711449.1:p.Ala417Asp
XM_011509640.3:c.1250C>A	XP_011507942.1:p.Ala417Asp
NM_181871.4:c.1349C>A	NP_870986.1:p.Ala450Asp