Canonical Allele Identifier: CA2481224731

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155290367G= , CM000663.2:g.155290367G=	GRCh38
NC_000001.10:g.155260158G= , CM000663.1:g.155260158G=	GRCh37
NC_000001.9:g.153526782G=	NCBI36
NG_011677.1:g.16068C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.*205C= MANE Select	ENSP00000339933.4:n.*205C=
ENST00000342741.4:c.*205C=	ENSP00000339933.4:n.*205C=
ENST00000392414.7:c.*205C=	ENSP00000376214.3:n.*205C=
NM_000298.5:c.*205C=	NP_000289.1:n.*205C=
NM_181871.3:c.*205C=	NP_870986.1:n.*205C=
XM_005245266.3:c.*205C=	XP_005245323.1:n.*205C=
XM_006711386.2:c.*205C=	XP_006711449.1:n.*205C=
XM_011509640.1:c.*205C=	XP_011507942.1:n.*205C=
NM_000298.6:c.*205C= MANE Select	NP_000289.1:n.*205C=
XM_006711386.4:c.*205C=	XP_006711449.1:n.*205C=
XM_011509640.3:c.*205C=	XP_011507942.1:n.*205C=
NM_181871.4:c.*205C=	NP_870986.1:n.*205C=