Canonical Allele Identifier: CA1134165990

Gene: PHKA1

Linked Data

• dbSNP Id: rs1197963532
• gnomAD v3: X-72579761-C-CAT
• gnomAD v4: X-72579761-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72579763_72579764dup , CM000685.2:g.72579763_72579764dup	GRCh38
NC_000023.10:g.71799613_71799614dup , CM000685.1:g.71799613_71799614dup	GRCh37
NC_000023.9:g.71716338_71716339dup	NCBI36
NG_016599.1:g.139417_139418dup
NG_016599.2:g.139419_139420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.*1239_*1240dup MANE Select	ENSP00000362643.4:n.*1239_*1240dup
ENST00000339490.7:c.*1239_*1240dup	ENSP00000342469.3:n.*1239_*1240dup
ENST00000373542.8:c.*1239_*1240dup	ENSP00000362643.4:n.*1239_*1240dup
ENST00000373545.7:c.*1239_*1240dup	ENSP00000362646.3:n.*1239_*1240dup
ENST00000541944.5:c.*1239_*1240dup	ENSP00000441251.1:n.*1239_*1240dup
NM_001122670.1:c.*1239_*1240dup	NP_001116142.1:n.*1239_*1240dup
NM_001172436.1:c.*1239_*1240dup	NP_001165907.1:n.*1239_*1240dup
NM_002637.3:c.*1239_*1240dup	NP_002628.2:n.*1239_*1240dup
XM_006724661.2:c.*1239_*1240dup	XP_006724724.1:n.*1239_*1240dup
XR_001755696.1:n.5841_5842dup
NM_002637.4:c.*1239_*1240dup MANE Select	NP_002628.2:n.*1239_*1240dup
NM_001122670.2:c.*1239_*1240dup	NP_001116142.1:n.*1239_*1240dup
NM_001172436.2:c.*1239_*1240dup	NP_001165907.1:n.*1239_*1240dup