Canonical Allele Identifier: CA10361266

Gene: PHKA2 PHKA2-AS1

Linked Data

• dbSNP Id: rs763111073
• ExAC: X:18911794 G / A
• gnomAD v2: X-18911794-G-A
• gnomAD v4: X-18893676-G-A
• MyVariant Identifiers: chrX:g.18911794G>A (hg19) ; chrX:g.18893676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18893676G>A , CM000685.2:g.18893676G>A	GRCh38
NC_000023.10:g.18911794G>A , CM000685.1:g.18911794G>A	GRCh37
NC_000023.9:g.18821715G>A	NCBI36
NG_016622.1:g.95687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.3538-21C>T (PHKA2) MANE Select	ENSP00000369274.4:n.3538-21C>T
ENST00000379942.4:c.3538-21C>T (PHKA2)	ENSP00000369274.4:n.3538-21C>T
ENST00000469485.5:n.1263-21C>T (PHKA2)
ENST00000473597.1:n.307-21C>T (PHKA2)
ENST00000481718.1:n.2432-21C>T (PHKA2)
NM_000292.2:c.3538-21C>T (PHKA2)	NP_000283.1:n.3538-21C>T
NR_029379.1:n.467+338G>A (PHKA2-AS1)
XM_005274548.3:c.3484-21C>T (PHKA2)	XP_005274605.1:n.3484-21C>T
XM_005274550.3:c.3454-21C>T (PHKA2)	XP_005274607.1:n.3454-21C>T
XM_006724496.2:c.3562-21C>T (PHKA2)	XP_006724559.1:n.3562-21C>T
XM_006724498.2:c.3016-21C>T (PHKA2)	XP_006724561.1:n.3016-21C>T
XM_011545537.1:c.3463-21C>T (PHKA2)	XP_011543839.1:n.3463-21C>T
XM_011545538.1:c.2545-21C>T (PHKA2)	XP_011543840.1:n.2545-21C>T
XM_005274548.5:c.3484-21C>T (PHKA2)	XP_005274605.1:n.3484-21C>T
XM_005274550.5:c.3454-21C>T (PHKA2)	XP_005274607.1:n.3454-21C>T
XM_006724496.4:c.3562-21C>T (PHKA2)	XP_006724559.1:n.3562-21C>T
XM_006724498.4:c.3016-21C>T (PHKA2)	XP_006724561.1:n.3016-21C>T
XM_011545537.3:c.3463-21C>T (PHKA2)	XP_011543839.1:n.3463-21C>T
XM_011545538.3:c.2545-21C>T (PHKA2)	XP_011543840.1:n.2545-21C>T
XM_017029580.2:c.2656-21C>T (PHKA2)	XP_016885069.1:n.2656-21C>T
XR_001755698.2:n.5666-21C>T (PHKA2)
NM_000292.3:c.3538-21C>T (PHKA2) MANE Select	NP_000283.1:n.3538-21C>T