Canonical Allele Identifier: CA2766007393
Gene: PRKAA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40790268T>G , CM000667.2:g.40790268T>G GRCh38
NC_000005.9:g.40790370T>G , CM000667.1:g.40790370T>G GRCh37
NC_000005.8:g.40826127T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000397128.7:c.127+7795A>C MANE Select ENSP00000380317.2:n.127+7795A>C
ENST00000296800.4:c.100+7795A>C ENSP00000296800.4:n.100+7795A>C
ENST00000354209.7:c.127+7795A>C ENSP00000346148.3:n.127+7795A>C
ENST00000397006.2:n.108+7795A>C
ENST00000397128.6:c.127+7795A>C ENSP00000380317.2:n.127+7795A>C
ENST00000506652.5:n.86+7795A>C
ENST00000509874.5:n.127+7795A>C
ENST00000511248.1:n.97+7795A>C
NM_006251.5:c.127+7795A>C NP_006242.5:n.127+7795A>C
NM_206907.3:c.127+7795A>C NP_996790.3:n.127+7795A>C
XM_006714482.1:c.-560+7795A>C XP_006714545.1:n.-560+7795A>C
NM_001355028.1:c.-258+7795A>C NP_001341957.1:n.-258+7795A>C
NM_001355029.1:c.-212+7795A>C NP_001341958.1:n.-212+7795A>C
NM_001355034.1:c.127+7795A>C NP_001341963.1:n.127+7795A>C
NM_001355035.1:c.-560+7795A>C NP_001341964.1:n.-560+7795A>C
NM_001355036.1:c.-495+7795A>C NP_001341965.1:n.-495+7795A>C
NM_001355037.1:c.-605+7795A>C NP_001341966.1:n.-605+7795A>C
NM_001355028.2:c.-258+7795A>C NP_001341957.1:n.-258+7795A>C
NM_001355029.2:c.-212+7795A>C NP_001341958.1:n.-212+7795A>C
NM_001355035.2:c.-560+7795A>C NP_001341964.1:n.-560+7795A>C
NM_001355036.2:c.-495+7795A>C NP_001341965.1:n.-495+7795A>C
NM_001355037.2:c.-605+7795A>C NP_001341966.1:n.-605+7795A>C
NM_001355034.2:c.127+7795A>C NP_001341963.1:n.127+7795A>C
NM_006251.6:c.127+7795A>C MANE Select NP_006242.5:n.127+7795A>C
NM_206907.4:c.127+7795A>C NP_996790.3:n.127+7795A>C