Canonical Allele Identifier: CA413584974

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72593202T>C , CM000685.2:g.72593202T>C	GRCh38
NC_000023.10:g.71813052T>C , CM000685.1:g.71813052T>C	GRCh37
NC_000023.9:g.71729777T>C	NCBI36
NG_016599.1:g.125978A>G
NG_016599.2:g.125980A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.3145A>G MANE Select	ENSP00000362643.4:p.Ser1049Gly
ENST00000339490.7:c.3106A>G	ENSP00000342469.3:p.Ser1036Gly
ENST00000373539.3:c.3196A>G	ENSP00000362640.3:p.Ser1066Gly
ENST00000373542.8:c.3145A>G	ENSP00000362643.4:p.Ser1049Gly
ENST00000373545.7:c.3019A>G	ENSP00000362646.3:p.Ser1007Gly
ENST00000541944.5:c.2929A>G	ENSP00000441251.1:p.Ser977Gly
NM_001122670.1:c.3106A>G	NP_001116142.1:p.Ser1036Gly
NM_001172436.1:c.2929A>G	NP_001165907.1:p.Ser977Gly
NM_002637.3:c.3145A>G	NP_002628.2:p.Ser1049Gly
XM_006724661.2:c.2968A>G	XP_006724724.1:p.Ser990Gly
XR_001755696.1:n.3249A>G
NM_002637.4:c.3145A>G MANE Select	NP_002628.2:p.Ser1049Gly
NM_001122670.2:c.3106A>G	NP_001116142.1:p.Ser1036Gly
NM_001172436.2:c.2929A>G	NP_001165907.1:p.Ser977Gly