Canonical Allele Identifier: CA2436817018

Gene: PHKA1

Linked Data

• dbSNP Id: rs2052311964

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72579785T>C , CM000685.2:g.72579785T>C	GRCh38
NC_000023.10:g.71799635T>C , CM000685.1:g.71799635T>C	GRCh37
NC_000023.9:g.71716360T>C	NCBI36
NG_016599.1:g.139395A>G
NG_016599.2:g.139397A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373542.9:c.*1217A>G MANE Select	ENSP00000362643.4:n.*1217A>G
ENST00000339490.7:c.*1217A>G	ENSP00000342469.3:n.*1217A>G
ENST00000373542.8:c.*1217A>G	ENSP00000362643.4:n.*1217A>G
ENST00000373545.7:c.*1217A>G	ENSP00000362646.3:n.*1217A>G
ENST00000541944.5:c.*1217A>G	ENSP00000441251.1:n.*1217A>G
NM_001122670.1:c.*1217A>G	NP_001116142.1:n.*1217A>G
NM_001172436.1:c.*1217A>G	NP_001165907.1:n.*1217A>G
NM_002637.3:c.*1217A>G	NP_002628.2:n.*1217A>G
XM_006724661.2:c.*1217A>G	XP_006724724.1:n.*1217A>G
XR_001755696.1:n.5819A>G
NM_002637.4:c.*1217A>G MANE Select	NP_002628.2:n.*1217A>G
NM_001122670.2:c.*1217A>G	NP_001116142.1:n.*1217A>G
NM_001172436.2:c.*1217A>G	NP_001165907.1:n.*1217A>G