Canonical Allele Identifier: CA2648267577

Gene: PKLR

Linked Data

• gnomAD v4: 1-155291718-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291718A>G , CM000663.2:g.155291718A>G	GRCh38
NC_000001.10:g.155261509A>G , CM000663.1:g.155261509A>G	GRCh37
NC_000001.9:g.153528133A>G	NCBI36
NG_011677.1:g.14717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1618+38T>C MANE Select	ENSP00000339933.4:n.1618+38T>C
ENST00000342741.4:c.1618+38T>C	ENSP00000339933.4:n.1618+38T>C
ENST00000392414.7:c.1525+38T>C	ENSP00000376214.3:n.1525+38T>C
NM_000298.5:c.1618+38T>C	NP_000289.1:n.1618+38T>C
NM_181871.3:c.1525+38T>C	NP_870986.1:n.1525+38T>C
XM_005245266.3:c.1777+38T>C	XP_005245323.1:n.1777+38T>C
XM_006711386.2:c.1426+38T>C	XP_006711449.1:n.1426+38T>C
XM_011509640.1:c.1426+38T>C	XP_011507942.1:n.1426+38T>C
NM_000298.6:c.1618+38T>C MANE Select	NP_000289.1:n.1618+38T>C
XM_006711386.4:c.1426+38T>C	XP_006711449.1:n.1426+38T>C
XM_011509640.3:c.1426+38T>C	XP_011507942.1:n.1426+38T>C
NM_181871.4:c.1525+38T>C	NP_870986.1:n.1525+38T>C