Canonical Allele Identifier: CA2596528689

Gene: PHKA1

Linked Data

• gnomAD v3: X-72667327-T-C
• gnomAD v4: X-72667327-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72667327T>C , CM000685.2:g.72667327T>C	GRCh38
NC_000023.10:g.71887177T>C , CM000685.1:g.71887177T>C	GRCh37
NC_000023.9:g.71803902T>C	NCBI36
NG_016599.1:g.51853A>G
NG_016599.2:g.51855A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373542.9:c.717+48A>G MANE Select	ENSP00000362643.4:n.717+48A>G
ENST00000339490.7:c.717+48A>G	ENSP00000342469.3:n.717+48A>G
ENST00000373539.3:c.717+48A>G	ENSP00000362640.3:n.717+48A>G
ENST00000373542.8:c.717+48A>G	ENSP00000362643.4:n.717+48A>G
ENST00000373545.7:c.717+48A>G	ENSP00000362646.3:n.717+48A>G
ENST00000541944.5:c.717+48A>G	ENSP00000441251.1:n.717+48A>G
NM_001122670.1:c.717+48A>G	NP_001116142.1:n.717+48A>G
NM_001172436.1:c.717+48A>G	NP_001165907.1:n.717+48A>G
NM_002637.3:c.717+48A>G	NP_002628.2:n.717+48A>G
XM_006724661.2:c.717+48A>G	XP_006724724.1:n.717+48A>G
XR_001755696.1:n.860+48A>G
NM_002637.4:c.717+48A>G MANE Select	NP_002628.2:n.717+48A>G
NM_001122670.2:c.717+48A>G	NP_001116142.1:n.717+48A>G
NM_001172436.2:c.717+48A>G	NP_001165907.1:n.717+48A>G