Canonical Allele Identifier: CA2436817847
Gene: PHKA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72582562C= , CM000685.2:g.72582562C= GRCh38
NC_000023.10:g.71802412C= , CM000685.1:g.71802412C= GRCh37
NC_000023.9:g.71719137C= NCBI36
NG_016599.1:g.136618G=
NG_016599.2:g.136620G=

Transcript Alleles

HGVS Amino-acid Change
NM_002637.4:c.3334G= MANE Select NP_002628.2:p.Glu1112=
ENST00000373542.9:c.3334G= MANE Select ENSP00000362643.4:p.Glu1112=
NM_001122670.1:c.3295G= NP_001116142.1:p.Glu1099=
NM_001122670.2:c.3295G= NP_001116142.1:p.Glu1099=
NM_001172436.1:c.3118G= NP_001165907.1:p.Glu1040=
NM_001172436.2:c.3118G= NP_001165907.1:p.Glu1040=
NM_002637.3:c.3334G= NP_002628.2:p.Glu1112=
ENST00000339490.7:c.3295G= ENSP00000342469.3:p.Glu1099=
ENST00000373539.3:c.3385G= ENSP00000362640.3:p.Glu1129=
ENST00000373542.8:c.3334G= ENSP00000362643.4:p.Glu1112=
ENST00000373545.7:c.3208G= ENSP00000362646.3:p.Glu1070=
ENST00000541944.5:c.3118G= ENSP00000441251.1:p.Glu1040=
XM_006724661.2:c.3157G= XP_006724724.1:p.Glu1053=
XR_001755696.1:n.4264G=