Canonical Allele Identifier: CA1144148

Gene: PKLR

Linked Data

• ClinVar Variation Id: 2921246
• ClinVar RCV Id: RCV003740649
• dbSNP Id: rs753748659
• ExAC: 1:155264183 G / A
• gnomAD v2: 1-155264183-G-A
• gnomAD v3: 1-155294392-G-A
• gnomAD v4: 1-155294392-G-A
• MyVariant Identifiers: chr1:g.155264183G>A (hg19) ; chr1:g.155294392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294392G>A , CM000663.2:g.155294392G>A	GRCh38
NC_000001.10:g.155264183G>A , CM000663.1:g.155264183G>A	GRCh37
NC_000001.9:g.153530807G>A	NCBI36
NG_011677.1:g.12043C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.966-7C>T MANE Select	ENSP00000339933.4:n.966-7C>T
ENST00000342741.4:c.966-7C>T	ENSP00000339933.4:n.966-7C>T
ENST00000392414.7:c.873-7C>T	ENSP00000376214.3:n.873-7C>T
NM_000298.5:c.966-7C>T	NP_000289.1:n.966-7C>T
NM_181871.3:c.873-7C>T	NP_870986.1:n.873-7C>T
XM_005245266.3:c.1125-7C>T	XP_005245323.1:n.1125-7C>T
XM_006711386.2:c.774-7C>T	XP_006711449.1:n.774-7C>T
XM_011509639.1:c.1125-7C>T	XP_011507941.1:n.1125-7C>T
XM_011509640.1:c.774-7C>T	XP_011507942.1:n.774-7C>T
NM_000298.6:c.966-7C>T MANE Select	NP_000289.1:n.966-7C>T
XM_006711386.4:c.774-7C>T	XP_006711449.1:n.774-7C>T
XM_011509640.3:c.774-7C>T	XP_011507942.1:n.774-7C>T
XM_017001493.1:c.966-7C>T	XP_016856982.1:n.966-7C>T
NM_181871.4:c.873-7C>T	NP_870986.1:n.873-7C>T