Canonical Allele Identifier: CA10361388

Gene: PHKA2

Linked Data

• ClinVar Variation Id: 384586
• ClinVar RCV Id: RCV000425320 ; RCV000924481
• dbSNP Id: rs150764699
• ExAC: X:18915320 G / A
• gnomAD v2: X-18915320-G-A
• gnomAD v3: X-18897202-G-A
• gnomAD v4: X-18897202-G-A
• MyVariant Identifiers: chrX:g.18915320G>A (hg19) ; chrX:g.18897202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18897202G>A , CM000685.2:g.18897202G>A	GRCh38
NC_000023.10:g.18915320G>A , CM000685.1:g.18915320G>A	GRCh37
NC_000023.9:g.18825241G>A	NCBI36
NG_016622.1:g.92161C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379942.5:c.3243C>T MANE Select	ENSP00000369274.4:p.Pro1081=
ENST00000379942.4:c.3243C>T	ENSP00000369274.4:p.Pro1081=
ENST00000469485.5:n.968C>T
ENST00000469645.5:n.643C>T
ENST00000473739.5:n.335C>T
NM_000292.2:c.3243C>T	NP_000283.1:p.Pro1081=
XM_005274548.3:c.3189C>T	XP_005274605.1:p.Pro1063=
XM_005274550.3:c.3159C>T	XP_005274607.1:p.Pro1053=
XM_006724496.2:c.3267C>T	XP_006724559.1:p.Pro1089=
XM_006724498.2:c.2721C>T	XP_006724561.1:p.Pro907=
XM_011545537.1:c.3168C>T	XP_011543839.1:p.Pro1056=
XM_011545538.1:c.2250C>T	XP_011543840.1:p.Pro750=
XM_005274548.5:c.3189C>T	XP_005274605.1:p.Pro1063=
XM_005274550.5:c.3159C>T	XP_005274607.1:p.Pro1053=
XM_006724496.4:c.3267C>T	XP_006724559.1:p.Pro1089=
XM_006724498.4:c.2721C>T	XP_006724561.1:p.Pro907=
XM_011545537.3:c.3168C>T	XP_011543839.1:p.Pro1056=
XM_011545538.3:c.2250C>T	XP_011543840.1:p.Pro750=
XM_017029580.2:c.2361C>T	XP_016885069.1:p.Pro787=
XR_001755698.2:n.5371C>T
XR_002958777.1:n.3448C>T
NM_000292.3:c.3243C>T MANE Select	NP_000283.1:p.Pro1081=