Canonical Allele Identifier: CA2648267164

Gene: PKLR

Linked Data

• gnomAD v4: 1-155290694-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290694A>C , CM000663.2:g.155290694A>C	GRCh38
NC_000001.10:g.155260485A>C , CM000663.1:g.155260485A>C	GRCh37
NC_000001.9:g.153527109A>C	NCBI36
NG_011677.1:g.15741T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1619-16T>G MANE Select	ENSP00000339933.4:n.1619-16T>G
ENST00000342741.4:c.1619-16T>G	ENSP00000339933.4:n.1619-16T>G
ENST00000392414.7:c.1526-16T>G	ENSP00000376214.3:n.1526-16T>G
NM_000298.5:c.1619-16T>G	NP_000289.1:n.1619-16T>G
NM_181871.3:c.1526-16T>G	NP_870986.1:n.1526-16T>G
XM_005245266.3:c.1778-16T>G	XP_005245323.1:n.1778-16T>G
XM_006711386.2:c.1427-16T>G	XP_006711449.1:n.1427-16T>G
XM_011509640.1:c.1427-16T>G	XP_011507942.1:n.1427-16T>G
NM_000298.6:c.1619-16T>G MANE Select	NP_000289.1:n.1619-16T>G
XM_006711386.4:c.1427-16T>G	XP_006711449.1:n.1427-16T>G
XM_011509640.3:c.1427-16T>G	XP_011507942.1:n.1427-16T>G
NM_181871.4:c.1526-16T>G	NP_870986.1:n.1526-16T>G