Canonical Allele Identifier: CA413594485

Gene: PHKA1

Linked Data

• MyVariant Identifiers: chrX:g.71887260T>G (hg19) ; chrX:g.72667410T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667410T>G , CM000685.2:g.72667410T>G	GRCh38
NC_000023.10:g.71887260T>G , CM000685.1:g.71887260T>G	GRCh37
NC_000023.9:g.71803985T>G	NCBI36
NG_016599.1:g.51770A>C
NG_016599.2:g.51772A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.682A>C MANE Select	ENSP00000362643.4:p.Ile228Leu
ENST00000339490.7:c.682A>C	ENSP00000342469.3:p.Ile228Leu
ENST00000373539.3:c.682A>C	ENSP00000362640.3:p.Ile228Leu
ENST00000373542.8:c.682A>C	ENSP00000362643.4:p.Ile228Leu
ENST00000373545.7:c.682A>C	ENSP00000362646.3:p.Ile228Leu
ENST00000541944.5:c.682A>C	ENSP00000441251.1:p.Ile228Leu
NM_001122670.1:c.682A>C	NP_001116142.1:p.Ile228Leu
NM_001172436.1:c.682A>C	NP_001165907.1:p.Ile228Leu
NM_002637.3:c.682A>C	NP_002628.2:p.Ile228Leu
XM_006724661.2:c.682A>C	XP_006724724.1:p.Ile228Leu
XR_001755696.1:n.825A>C
NM_002637.4:c.682A>C MANE Select	NP_002628.2:p.Ile228Leu
NM_001122670.2:c.682A>C	NP_001116142.1:p.Ile228Leu
NM_001172436.2:c.682A>C	NP_001165907.1:p.Ile228Leu