Canonical Allele Identifier: CA413594541

Gene: PHKA1

Linked Data

• MyVariant Identifiers: chrX:g.71887288A>C (hg19) ; chrX:g.72667438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667438A>C , CM000685.2:g.72667438A>C	GRCh38
NC_000023.10:g.71887288A>C , CM000685.1:g.71887288A>C	GRCh37
NC_000023.9:g.71804013A>C	NCBI36
NG_016599.1:g.51742T>G
NG_016599.2:g.51744T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373542.9:c.654T>G MANE Select	ENSP00000362643.4:p.Phe218Leu
ENST00000339490.7:c.654T>G	ENSP00000342469.3:p.Phe218Leu
ENST00000373539.3:c.654T>G	ENSP00000362640.3:p.Phe218Leu
ENST00000373542.8:c.654T>G	ENSP00000362643.4:p.Phe218Leu
ENST00000373545.7:c.654T>G	ENSP00000362646.3:p.Phe218Leu
ENST00000541944.5:c.654T>G	ENSP00000441251.1:p.Phe218Leu
NM_001122670.1:c.654T>G	NP_001116142.1:p.Phe218Leu
NM_001172436.1:c.654T>G	NP_001165907.1:p.Phe218Leu
NM_002637.3:c.654T>G	NP_002628.2:p.Phe218Leu
XM_006724661.2:c.654T>G	XP_006724724.1:p.Phe218Leu
XR_001755696.1:n.797T>G
NM_002637.4:c.654T>G MANE Select	NP_002628.2:p.Phe218Leu
NM_001122670.2:c.654T>G	NP_001116142.1:p.Phe218Leu
NM_001172436.2:c.654T>G	NP_001165907.1:p.Phe218Leu