Canonical Allele Identifier: CA2694085547

Gene: PHKA1

Linked Data

• gnomAD v4: X-72579789-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72579789A>G , CM000685.2:g.72579789A>G	GRCh38
NC_000023.10:g.71799639A>G , CM000685.1:g.71799639A>G	GRCh37
NC_000023.9:g.71716364A>G	NCBI36
NG_016599.1:g.139391T>C
NG_016599.2:g.139393T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.*1213T>C MANE Select	ENSP00000362643.4:n.*1213T>C
ENST00000339490.7:c.*1213T>C	ENSP00000342469.3:n.*1213T>C
ENST00000373542.8:c.*1213T>C	ENSP00000362643.4:n.*1213T>C
ENST00000373545.7:c.*1213T>C	ENSP00000362646.3:n.*1213T>C
ENST00000541944.5:c.*1213T>C	ENSP00000441251.1:n.*1213T>C
NM_001122670.1:c.*1213T>C	NP_001116142.1:n.*1213T>C
NM_001172436.1:c.*1213T>C	NP_001165907.1:n.*1213T>C
NM_002637.3:c.*1213T>C	NP_002628.2:n.*1213T>C
XM_006724661.2:c.*1213T>C	XP_006724724.1:n.*1213T>C
XR_001755696.1:n.5815T>C
NM_002637.4:c.*1213T>C MANE Select	NP_002628.2:n.*1213T>C
NM_001122670.2:c.*1213T>C	NP_001116142.1:n.*1213T>C
NM_001172436.2:c.*1213T>C	NP_001165907.1:n.*1213T>C