Canonical Allele Identifier: CA342754802

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294734-G-T
• MyVariant Identifiers: chr1:g.155264525G>T (hg19) ; chr1:g.155294734G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294734G>T , CM000663.2:g.155294734G>T	GRCh38
NC_000001.10:g.155264525G>T , CM000663.1:g.155264525G>T	GRCh37
NC_000001.9:g.153531149G>T	NCBI36
NG_011677.1:g.11701C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342741.6:c.713C>A MANE Select	ENSP00000339933.4:p.Thr238Asn
ENST00000342741.4:c.713C>A	ENSP00000339933.4:p.Thr238Asn
ENST00000392414.7:c.620C>A	ENSP00000376214.3:p.Thr207Asn
NM_000298.5:c.713C>A	NP_000289.1:p.Thr238Asn
NM_181871.3:c.620C>A	NP_870986.1:p.Thr207Asn
XM_005245266.3:c.872C>A	XP_005245323.1:p.Thr291Asn
XM_006711386.2:c.521C>A	XP_006711449.1:p.Thr174Asn
XM_011509639.1:c.872C>A	XP_011507941.1:p.Thr291Asn
XM_011509640.1:c.521C>A	XP_011507942.1:p.Thr174Asn
NM_000298.6:c.713C>A MANE Select	NP_000289.1:p.Thr238Asn
XM_006711386.4:c.521C>A	XP_006711449.1:p.Thr174Asn
XM_011509640.3:c.521C>A	XP_011507942.1:p.Thr174Asn
XM_017001493.1:c.713C>A	XP_016856982.1:p.Thr238Asn
NM_181871.4:c.620C>A	NP_870986.1:p.Thr207Asn