Canonical Allele Identifier: CA2436816651
Community Standard Title: NM_002637.4(PHKA1):c.*1953C=
Gene: PHKA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.72579049G= , CM000685.2:g.72579049G= GRCh38
NC_000023.10:g.71798899G= , CM000685.1:g.71798899G= GRCh37
NC_000023.9:g.71715624G= NCBI36
NG_016599.1:g.140131C=
NG_016599.2:g.140133C=

Transcript Alleles

HGVS Amino-acid Change
NM_002637.4:c.*1953C= MANE Select NP_002628.2:n.*1953C=
ENST00000373542.9:c.*1953C= MANE Select ENSP00000362643.4:n.*1953C=
NM_001122670.1:c.*1953C= NP_001116142.1:n.*1953C=
NM_001122670.2:c.*1953C= NP_001116142.1:n.*1953C=
NM_001172436.1:c.*1953C= NP_001165907.1:n.*1953C=
NM_001172436.2:c.*1953C= NP_001165907.1:n.*1953C=
NM_002637.3:c.*1953C= NP_002628.2:n.*1953C=
ENST00000339490.7:c.*1953C= ENSP00000342469.3:n.*1953C=
ENST00000373542.8:c.*1953C= ENSP00000362643.4:n.*1953C=
ENST00000373545.7:c.*1953C= ENSP00000362646.3:n.*1953C=
ENST00000541944.5:c.*1953C= ENSP00000441251.1:n.*1953C=
XM_006724661.2:c.*1953C= XP_006724724.1:n.*1953C=
XR_001755696.1:n.6555C=