Canonical Allele Identifier: CA2481225434

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155291900C= , CM000663.2:g.155291900C=	GRCh38
NC_000001.10:g.155261691C= , CM000663.1:g.155261691C=	GRCh37
NC_000001.9:g.153528315C=	NCBI36
NG_011677.1:g.14535G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.1474G= MANE Select	ENSP00000339933.4:p.Ala492=
ENST00000342741.4:c.1474G=	ENSP00000339933.4:p.Ala492=
ENST00000392414.7:c.1381G=	ENSP00000376214.3:p.Ala461=
NM_000298.5:c.1474G=	NP_000289.1:p.Ala492=
NM_181871.3:c.1381G=	NP_870986.1:p.Ala461=
XM_005245266.3:c.1633G=	XP_005245323.1:p.Ala545=
XM_006711386.2:c.1282G=	XP_006711449.1:p.Ala428=
XM_011509640.1:c.1282G=	XP_011507942.1:p.Ala428=
NM_000298.6:c.1474G= MANE Select	NP_000289.1:p.Ala492=
XM_006711386.4:c.1282G=	XP_006711449.1:p.Ala428=
XM_011509640.3:c.1282G=	XP_011507942.1:p.Ala428=
NM_181871.4:c.1381G=	NP_870986.1:p.Ala461=