Canonical Allele Identifier: CA516753804

Gene: PHKA1

Linked Data

• dbSNP Id: rs1374075213
• gnomAD v3: X-72667399-C-A
• gnomAD v4: X-72667399-C-A
• MyVariant Identifiers: chrX:g.71887249C>A (hg19) ; chrX:g.72667399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667399C>A , CM000685.2:g.72667399C>A	GRCh38
NC_000023.10:g.71887249C>A , CM000685.1:g.71887249C>A	GRCh37
NC_000023.9:g.71803974C>A	NCBI36
NG_016599.1:g.51781G>T
NG_016599.2:g.51783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.693G>T MANE Select	ENSP00000362643.4:p.Leu231=
ENST00000339490.7:c.693G>T	ENSP00000342469.3:p.Leu231=
ENST00000373539.3:c.693G>T	ENSP00000362640.3:p.Leu231=
ENST00000373542.8:c.693G>T	ENSP00000362643.4:p.Leu231=
ENST00000373545.7:c.693G>T	ENSP00000362646.3:p.Leu231=
ENST00000541944.5:c.693G>T	ENSP00000441251.1:p.Leu231=
NM_001122670.1:c.693G>T	NP_001116142.1:p.Leu231=
NM_001172436.1:c.693G>T	NP_001165907.1:p.Leu231=
NM_002637.3:c.693G>T	NP_002628.2:p.Leu231=
XM_006724661.2:c.693G>T	XP_006724724.1:p.Leu231=
XR_001755696.1:n.836G>T
NM_002637.4:c.693G>T MANE Select	NP_002628.2:p.Leu231=
NM_001122670.2:c.693G>T	NP_001116142.1:p.Leu231=
NM_001172436.2:c.693G>T	NP_001165907.1:p.Leu231=