Canonical Allele Identifier: CA889657733

Gene: PKLR

Linked Data

• dbSNP Id: rs1391601896
• MyVariant Identifiers: chr1:g.155264259A>G (hg19) ; chr1:g.155294468A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294468A>G , CM000663.2:g.155294468A>G	GRCh38
NC_000001.10:g.155264259A>G , CM000663.1:g.155264259A>G	GRCh37
NC_000001.9:g.153530883A>G	NCBI36
NG_011677.1:g.11967T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.965+14T>C MANE Select	ENSP00000339933.4:n.965+14T>C
ENST00000342741.4:c.965+14T>C	ENSP00000339933.4:n.965+14T>C
ENST00000392414.7:c.872+14T>C	ENSP00000376214.3:n.872+14T>C
NM_000298.5:c.965+14T>C	NP_000289.1:n.965+14T>C
NM_181871.3:c.872+14T>C	NP_870986.1:n.872+14T>C
XM_005245266.3:c.1124+14T>C	XP_005245323.1:n.1124+14T>C
XM_006711386.2:c.773+14T>C	XP_006711449.1:n.773+14T>C
XM_011509639.1:c.1124+14T>C	XP_011507941.1:n.1124+14T>C
XM_011509640.1:c.773+14T>C	XP_011507942.1:n.773+14T>C
NM_000298.6:c.965+14T>C MANE Select	NP_000289.1:n.965+14T>C
XM_006711386.4:c.773+14T>C	XP_006711449.1:n.773+14T>C
XM_011509640.3:c.773+14T>C	XP_011507942.1:n.773+14T>C
XM_017001493.1:c.965+14T>C	XP_016856982.1:n.965+14T>C
NM_181871.4:c.872+14T>C	NP_870986.1:n.872+14T>C