Canonical Allele Identifier: CA342753712

Gene: PKLR

Linked Data

• gnomAD v4: 1-155294497-T-G
• MyVariant Identifiers: chr1:g.155264288T>G (hg19) ; chr1:g.155294497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155294497T>G , CM000663.2:g.155294497T>G	GRCh38
NC_000001.10:g.155264288T>G , CM000663.1:g.155264288T>G	GRCh37
NC_000001.9:g.153530912T>G	NCBI36
NG_011677.1:g.11938A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.950A>C MANE Select	ENSP00000339933.4:p.His317Pro
ENST00000342741.4:c.950A>C	ENSP00000339933.4:p.His317Pro
ENST00000392414.7:c.857A>C	ENSP00000376214.3:p.His286Pro
NM_000298.5:c.950A>C	NP_000289.1:p.His317Pro
NM_181871.3:c.857A>C	NP_870986.1:p.His286Pro
XM_005245266.3:c.1109A>C	XP_005245323.1:p.His370Pro
XM_006711386.2:c.758A>C	XP_006711449.1:p.His253Pro
XM_011509639.1:c.1109A>C	XP_011507941.1:p.His370Pro
XM_011509640.1:c.758A>C	XP_011507942.1:p.His253Pro
NM_000298.6:c.950A>C MANE Select	NP_000289.1:p.His317Pro
XM_006711386.4:c.758A>C	XP_006711449.1:p.His253Pro
XM_011509640.3:c.758A>C	XP_011507942.1:p.His253Pro
XM_017001493.1:c.950A>C	XP_016856982.1:p.His317Pro
NM_181871.4:c.857A>C	NP_870986.1:p.His286Pro