Canonical Allele Identifier: CA1144026

Gene: PKLR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155293248G>A , CM000663.2:g.155293248G>A	GRCh38
NC_000001.10:g.155263039G>A , CM000663.1:g.155263039G>A	GRCh37
NC_000001.9:g.153529663G>A	NCBI36
NG_011677.1:g.13187C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000298.6:c.1365C>T MANE Select	NP_000289.1:p.Thr455=
ENST00000342741.6:c.1365C>T MANE Select	ENSP00000339933.4:p.Thr455=
NM_000298.5:c.1365C>T	NP_000289.1:p.Thr455=
NM_181871.3:c.1272C>T	NP_870986.1:p.Thr424=
NM_181871.4:c.1272C>T	NP_870986.1:p.Thr424=
ENST00000342741.4:c.1365C>T	ENSP00000339933.4:p.Thr455=
ENST00000392414.7:c.1272C>T	ENSP00000376214.3:p.Thr424=
XM_005245266.3:c.1524C>T	XP_005245323.1:p.Thr508=
XM_006711386.2:c.1173C>T	XP_006711449.1:p.Thr391=
XM_006711386.4:c.1173C>T	XP_006711449.1:p.Thr391=
XM_011509640.1:c.1173C>T	XP_011507942.1:p.Thr391=
XM_011509640.3:c.1173C>T	XP_011507942.1:p.Thr391=