Canonical Allele Identifier: CA516753821
Gene: PHKA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.71887270A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72667420A>T , CM000685.2:g.72667420A>T GRCh38
NC_000023.10:g.71887270A>T , CM000685.1:g.71887270A>T GRCh37
NC_000023.9:g.71803995A>T NCBI36
NG_016599.1:g.51760T>A
NG_016599.2:g.51762T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373542.9:c.672T>A MANE Select ENSP00000362643.4:p.Pro224=
ENST00000339490.7:c.672T>A ENSP00000342469.3:p.Pro224=
ENST00000373539.3:c.672T>A ENSP00000362640.3:p.Pro224=
ENST00000373542.8:c.672T>A ENSP00000362643.4:p.Pro224=
ENST00000373545.7:c.672T>A ENSP00000362646.3:p.Pro224=
ENST00000541944.5:c.672T>A ENSP00000441251.1:p.Pro224=
NM_001122670.1:c.672T>A NP_001116142.1:p.Pro224=
NM_001172436.1:c.672T>A NP_001165907.1:p.Pro224=
NM_002637.3:c.672T>A NP_002628.2:p.Pro224=
XM_006724661.2:c.672T>A XP_006724724.1:p.Pro224=
XR_001755696.1:n.815T>A
NM_002637.4:c.672T>A MANE Select NP_002628.2:p.Pro224=
NM_001122670.2:c.672T>A NP_001116142.1:p.Pro224=
NM_001172436.2:c.672T>A NP_001165907.1:p.Pro224=