Canonical Allele Identifier: CA2481225373

Gene: PKLR

Linked Data

• dbSNP Id: rs1318303282

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291737G>C , CM000663.2:g.155291737G>C	GRCh38
NC_000001.10:g.155261528G>C , CM000663.1:g.155261528G>C	GRCh37
NC_000001.9:g.153528152G>C	NCBI36
NG_011677.1:g.14698C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1618+19C>G MANE Select	ENSP00000339933.4:n.1618+19C>G
ENST00000342741.4:c.1618+19C>G	ENSP00000339933.4:n.1618+19C>G
ENST00000392414.7:c.1525+19C>G	ENSP00000376214.3:n.1525+19C>G
NM_000298.5:c.1618+19C>G	NP_000289.1:n.1618+19C>G
NM_181871.3:c.1525+19C>G	NP_870986.1:n.1525+19C>G
XM_005245266.3:c.1777+19C>G	XP_005245323.1:n.1777+19C>G
XM_006711386.2:c.1426+19C>G	XP_006711449.1:n.1426+19C>G
XM_011509640.1:c.1426+19C>G	XP_011507942.1:n.1426+19C>G
NM_000298.6:c.1618+19C>G MANE Select	NP_000289.1:n.1618+19C>G
XM_006711386.4:c.1426+19C>G	XP_006711449.1:n.1426+19C>G
XM_011509640.3:c.1426+19C>G	XP_011507942.1:n.1426+19C>G
NM_181871.4:c.1525+19C>G	NP_870986.1:n.1525+19C>G