Canonical Allele Identifier: CA889658868

Gene: PKLR

Linked Data

• dbSNP Id: rs1434239489
• gnomAD v4: 1-155295637-A-G
• MyVariant Identifiers: chr1:g.155265428A>G (hg19) ; chr1:g.155295637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295637A>G , CM000663.2:g.155295637A>G	GRCh38
NC_000001.10:g.155265428A>G , CM000663.1:g.155265428A>G	GRCh37
NC_000001.9:g.153532052A>G	NCBI36
NG_011677.1:g.10798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.375+28T>C MANE Select	ENSP00000339933.4:n.375+28T>C
ENST00000434082.3:c.183+28T>C	ENSP00000398037.3:n.183+28T>C
ENST00000342741.4:c.375+28T>C	ENSP00000339933.4:n.375+28T>C
ENST00000392414.7:c.282+28T>C	ENSP00000376214.3:n.282+28T>C
ENST00000434082.2:c.280+28T>C	ENSP00000398037.2:n.280+28T>C
NM_000298.5:c.375+28T>C	NP_000289.1:n.375+28T>C
NM_181871.3:c.282+28T>C	NP_870986.1:n.282+28T>C
XM_005245266.3:c.534+28T>C	XP_005245323.1:n.534+28T>C
XM_006711386.2:c.183+28T>C	XP_006711449.1:n.183+28T>C
XM_011509639.1:c.534+28T>C	XP_011507941.1:n.534+28T>C
XM_011509640.1:c.183+28T>C	XP_011507942.1:n.183+28T>C
NM_000298.6:c.375+28T>C MANE Select	NP_000289.1:n.375+28T>C
XM_006711386.4:c.183+28T>C	XP_006711449.1:n.183+28T>C
XM_011509640.3:c.183+28T>C	XP_011507942.1:n.183+28T>C
XM_017001493.1:c.375+28T>C	XP_016856982.1:n.375+28T>C
NM_181871.4:c.282+28T>C	NP_870986.1:n.282+28T>C