Canonical Allele Identifier: CA2596528185

Gene: PHKA1

Linked Data

• dbSNP Id: rs2052312075
• gnomAD v3: X-72579794-C-G
• gnomAD v4: X-72579794-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72579794C>G , CM000685.2:g.72579794C>G	GRCh38
NC_000023.10:g.71799644C>G , CM000685.1:g.71799644C>G	GRCh37
NC_000023.9:g.71716369C>G	NCBI36
NG_016599.1:g.139386G>C
NG_016599.2:g.139388G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373542.9:c.*1208G>C MANE Select	ENSP00000362643.4:n.*1208G>C
ENST00000339490.7:c.*1208G>C	ENSP00000342469.3:n.*1208G>C
ENST00000373542.8:c.*1208G>C	ENSP00000362643.4:n.*1208G>C
ENST00000373545.7:c.*1208G>C	ENSP00000362646.3:n.*1208G>C
ENST00000541944.5:c.*1208G>C	ENSP00000441251.1:n.*1208G>C
NM_001122670.1:c.*1208G>C	NP_001116142.1:n.*1208G>C
NM_001172436.1:c.*1208G>C	NP_001165907.1:n.*1208G>C
NM_002637.3:c.*1208G>C	NP_002628.2:n.*1208G>C
XM_006724661.2:c.*1208G>C	XP_006724724.1:n.*1208G>C
XR_001755696.1:n.5810G>C
NM_002637.4:c.*1208G>C MANE Select	NP_002628.2:n.*1208G>C
NM_001122670.2:c.*1208G>C	NP_001116142.1:n.*1208G>C
NM_001172436.2:c.*1208G>C	NP_001165907.1:n.*1208G>C