Canonical Allele Identifier: CA516753808

Gene: PHKA1

Linked Data

• COSMIC: COSM4901788 ; COSM4901789
• MyVariant Identifiers: chrX:g.71887252G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667402G>A , CM000685.2:g.72667402G>A	GRCh38
NC_000023.10:g.71887252G>A , CM000685.1:g.71887252G>A	GRCh37
NC_000023.9:g.71803977G>A	NCBI36
NG_016599.1:g.51778C>T
NG_016599.2:g.51780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.690C>T MANE Select	ENSP00000362643.4:p.Val230=
ENST00000339490.7:c.690C>T	ENSP00000342469.3:p.Val230=
ENST00000373539.3:c.690C>T	ENSP00000362640.3:p.Val230=
ENST00000373542.8:c.690C>T	ENSP00000362643.4:p.Val230=
ENST00000373545.7:c.690C>T	ENSP00000362646.3:p.Val230=
ENST00000541944.5:c.690C>T	ENSP00000441251.1:p.Val230=
NM_001122670.1:c.690C>T	NP_001116142.1:p.Val230=
NM_001172436.1:c.690C>T	NP_001165907.1:p.Val230=
NM_002637.3:c.690C>T	NP_002628.2:p.Val230=
XM_006724661.2:c.690C>T	XP_006724724.1:p.Val230=
XR_001755696.1:n.833C>T
NM_002637.4:c.690C>T MANE Select	NP_002628.2:p.Val230=
NM_001122670.2:c.690C>T	NP_001116142.1:p.Val230=
NM_001172436.2:c.690C>T	NP_001165907.1:p.Val230=