Canonical Allele Identifier: CA2821772726

Gene: PHKA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.72579041A>G , CM000685.2:g.72579041A>G	GRCh38
NC_000023.10:g.71798891A>G , CM000685.1:g.71798891A>G	GRCh37
NC_000023.9:g.71715616A>G	NCBI36
NG_016599.1:g.140139T>C
NG_016599.2:g.140141T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002637.4:c.*1961T>C MANE Select	NP_002628.2:n.*1961T>C
ENST00000373542.9:c.*1961T>C MANE Select	ENSP00000362643.4:n.*1961T>C
NM_001122670.1:c.*1961T>C	NP_001116142.1:n.*1961T>C
NM_001122670.2:c.*1961T>C	NP_001116142.1:n.*1961T>C
NM_001172436.1:c.*1961T>C	NP_001165907.1:n.*1961T>C
NM_001172436.2:c.*1961T>C	NP_001165907.1:n.*1961T>C
NM_002637.3:c.*1961T>C	NP_002628.2:n.*1961T>C
ENST00000339490.7:c.*1961T>C	ENSP00000342469.3:n.*1961T>C
ENST00000373542.8:c.*1961T>C	ENSP00000362643.4:n.*1961T>C
ENST00000373545.7:c.*1961T>C	ENSP00000362646.3:n.*1961T>C
ENST00000541944.5:c.*1961T>C	ENSP00000441251.1:n.*1961T>C
XM_006724661.2:c.*1961T>C	XP_006724724.1:n.*1961T>C
XR_001755696.1:n.6563T>C