Canonical Allele Identifier: CA2436843974

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667401G= , CM000685.2:g.72667401G=	GRCh38
NC_000023.10:g.71887251G= , CM000685.1:g.71887251G=	GRCh37
NC_000023.9:g.71803976G=	NCBI36
NG_016599.1:g.51779C=
NG_016599.2:g.51781C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.691C= MANE Select	ENSP00000362643.4:p.Leu231=
ENST00000339490.7:c.691C=	ENSP00000342469.3:p.Leu231=
ENST00000373539.3:c.691C=	ENSP00000362640.3:p.Leu231=
ENST00000373542.8:c.691C=	ENSP00000362643.4:p.Leu231=
ENST00000373545.7:c.691C=	ENSP00000362646.3:p.Leu231=
ENST00000541944.5:c.691C=	ENSP00000441251.1:p.Leu231=
NM_001122670.1:c.691C=	NP_001116142.1:p.Leu231=
NM_001172436.1:c.691C=	NP_001165907.1:p.Leu231=
NM_002637.3:c.691C=	NP_002628.2:p.Leu231=
XM_006724661.2:c.691C=	XP_006724724.1:p.Leu231=
XR_001755696.1:n.834C=
NM_002637.4:c.691C= MANE Select	NP_002628.2:p.Leu231=
NM_001122670.2:c.691C=	NP_001116142.1:p.Leu231=
NM_001172436.2:c.691C=	NP_001165907.1:p.Leu231=