Canonical Allele Identifier: CA1144505

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155301304G>A , CM000663.2:g.155301304G>A	GRCh38
NC_000001.10:g.155271095G>A , CM000663.1:g.155271095G>A	GRCh37
NC_000001.9:g.153537719G>A	NCBI36
NG_011677.1:g.5131C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.92C>T MANE Select	NP_000289.1:p.Ala31Val
ENST00000342741.6:c.92C>T MANE Select	ENSP00000339933.4:p.Ala31Val
NM_000298.5:c.92C>T	NP_000289.1:p.Ala31Val
ENST00000342741.4:c.92C>T	ENSP00000339933.4:p.Ala31Val
XM_005245266.3:c.251C>T	XP_005245323.1:p.Ala84Val
XM_011509639.1:c.251C>T	XP_011507941.1:p.Ala84Val
XM_017001493.1:c.92C>T	XP_016856982.1:p.Ala31Val