Canonical Allele Identifier: CA2842069223

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295659C>A , CM000663.2:g.155295659C>A	GRCh38
NC_000001.10:g.155265450C>A , CM000663.1:g.155265450C>A	GRCh37
NC_000001.9:g.153532074C>A	NCBI36
NG_011677.1:g.10776G>T

Transcript Alleles

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