Canonical Allele Identifier: CA30903133

Gene: PKLR

Linked Data

• dbSNP Id: rs903790572
• gnomAD v4: 1-155294455-C-T
• MyVariant Identifiers: chr1:g.155264246C>T (hg19) ; chr1:g.155294455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294455C>T , CM000663.2:g.155294455C>T	GRCh38
NC_000001.10:g.155264246C>T , CM000663.1:g.155264246C>T	GRCh37
NC_000001.9:g.153530870C>T	NCBI36
NG_011677.1:g.11980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.965+27G>A MANE Select	ENSP00000339933.4:n.965+27G>A
ENST00000342741.4:c.965+27G>A	ENSP00000339933.4:n.965+27G>A
ENST00000392414.7:c.872+27G>A	ENSP00000376214.3:n.872+27G>A
NM_000298.5:c.965+27G>A	NP_000289.1:n.965+27G>A
NM_181871.3:c.872+27G>A	NP_870986.1:n.872+27G>A
XM_005245266.3:c.1124+27G>A	XP_005245323.1:n.1124+27G>A
XM_006711386.2:c.773+27G>A	XP_006711449.1:n.773+27G>A
XM_011509639.1:c.1124+27G>A	XP_011507941.1:n.1124+27G>A
XM_011509640.1:c.773+27G>A	XP_011507942.1:n.773+27G>A
NM_000298.6:c.965+27G>A MANE Select	NP_000289.1:n.965+27G>A
XM_006711386.4:c.773+27G>A	XP_006711449.1:n.773+27G>A
XM_011509640.3:c.773+27G>A	XP_011507942.1:n.773+27G>A
XM_017001493.1:c.965+27G>A	XP_016856982.1:n.965+27G>A
NM_181871.4:c.872+27G>A	NP_870986.1:n.872+27G>A