Canonical Allele Identifier: CA412375875

Gene: PHKA2

Linked Data

• gnomAD v3: X-18951248-G-A
• gnomAD v4: X-18951248-G-A
• MyVariant Identifiers: chrX:g.18969366G>A (hg19) ; chrX:g.18951248G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18951248G>A , CM000685.2:g.18951248G>A	GRCh38
NC_000023.10:g.18969366G>A , CM000685.1:g.18969366G>A	GRCh37
NC_000023.9:g.18879287G>A	NCBI36
NG_016622.1:g.38115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.310C>T MANE Select	ENSP00000369274.4:p.His104Tyr
ENST00000379942.4:c.310C>T	ENSP00000369274.4:p.His104Tyr
NM_000292.2:c.310C>T	NP_000283.1:p.His104Tyr
XM_005274548.3:c.310C>T	XP_005274605.1:p.His104Tyr
XM_005274550.3:c.310C>T	XP_005274607.1:p.His104Tyr
XM_006724496.2:c.310C>T	XP_006724559.1:p.His104Tyr
XM_006724498.2:c.-93+1246C>T	XP_006724561.1:n.-93+1246C>T
XM_011545537.1:c.310C>T	XP_011543839.1:p.His104Tyr
XR_950461.1:n.494C>T
XM_005274548.5:c.310C>T	XP_005274605.1:p.His104Tyr
XM_005274550.5:c.310C>T	XP_005274607.1:p.His104Tyr
XM_006724496.4:c.310C>T	XP_006724559.1:p.His104Tyr
XM_006724498.4:c.-93+1246C>T	XP_006724561.1:n.-93+1246C>T
XM_011545537.3:c.310C>T	XP_011543839.1:p.His104Tyr
XR_001755697.2:n.480C>T
XR_001755698.2:n.480C>T
XR_002958777.1:n.480C>T
XR_950461.3:n.480C>T
NM_000292.3:c.310C>T MANE Select	NP_000283.1:p.His104Tyr