Canonical Allele Identifier: CA2673676425

Gene: PRKAA1

Linked Data

• gnomAD v4: 5-40790291-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40790291C>A , CM000667.2:g.40790291C>A	GRCh38
NC_000005.9:g.40790393C>A , CM000667.1:g.40790393C>A	GRCh37
NC_000005.8:g.40826150C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000397128.7:c.127+7772G>T MANE Select	ENSP00000380317.2:n.127+7772G>T
ENST00000296800.4:c.100+7772G>T	ENSP00000296800.4:n.100+7772G>T
ENST00000354209.7:c.127+7772G>T	ENSP00000346148.3:n.127+7772G>T
ENST00000397006.2:n.108+7772G>T
ENST00000397128.6:c.127+7772G>T	ENSP00000380317.2:n.127+7772G>T
ENST00000506652.5:n.86+7772G>T
ENST00000509874.5:n.127+7772G>T
ENST00000511248.1:n.97+7772G>T
NM_006251.5:c.127+7772G>T	NP_006242.5:n.127+7772G>T
NM_206907.3:c.127+7772G>T	NP_996790.3:n.127+7772G>T
XM_006714482.1:c.-560+7772G>T	XP_006714545.1:n.-560+7772G>T
NM_001355028.1:c.-258+7772G>T	NP_001341957.1:n.-258+7772G>T
NM_001355029.1:c.-212+7772G>T	NP_001341958.1:n.-212+7772G>T
NM_001355034.1:c.127+7772G>T	NP_001341963.1:n.127+7772G>T
NM_001355035.1:c.-560+7772G>T	NP_001341964.1:n.-560+7772G>T
NM_001355036.1:c.-495+7772G>T	NP_001341965.1:n.-495+7772G>T
NM_001355037.1:c.-605+7772G>T	NP_001341966.1:n.-605+7772G>T
NM_001355028.2:c.-258+7772G>T	NP_001341957.1:n.-258+7772G>T
NM_001355029.2:c.-212+7772G>T	NP_001341958.1:n.-212+7772G>T
NM_001355035.2:c.-560+7772G>T	NP_001341964.1:n.-560+7772G>T
NM_001355036.2:c.-495+7772G>T	NP_001341965.1:n.-495+7772G>T
NM_001355037.2:c.-605+7772G>T	NP_001341966.1:n.-605+7772G>T
NM_001355034.2:c.127+7772G>T	NP_001341963.1:n.127+7772G>T
NM_006251.6:c.127+7772G>T MANE Select	NP_006242.5:n.127+7772G>T
NM_206907.4:c.127+7772G>T	NP_996790.3:n.127+7772G>T