Canonical Allele Identifier: CA14220056
Gene: AKTIP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53502433C>T , CM000678.2:g.53502433C>T GRCh38
NC_000016.9:g.53536345C>T , CM000678.1:g.53536345C>T GRCh37
NC_000016.8:g.52093846C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000394657.12:c.-71+714G>A MANE Select ENSP00000378152.6:n.-71+714G>A
ENST00000300245.8:c.-121+714G>A ENSP00000300245.4:n.-121+714G>A
ENST00000394657.11:c.-71+714G>A ENSP00000378152.6:n.-71+714G>A
ENST00000561799.5:n.92+685G>A
ENST00000563108.5:n.60+714G>A
ENST00000564497.1:c.-71+267G>A ENSP00000456398.1:n.-71+267G>A
ENST00000565408.5:c.-71+1896G>A ENSP00000458118.1:n.-71+1896G>A
ENST00000566045.5:n.60+714G>A
ENST00000568596.5:c.-71+267G>A ENSP00000454771.1:n.-71+267G>A
ENST00000570004.5:c.-71+685G>A ENSP00000455874.1:n.-71+685G>A
NM_001012398.1:c.-71+685G>A NP_001012398.1:n.-71+685G>A
NM_001012398.2:c.-71+685G>A NP_001012398.1:n.-71+685G>A
NM_001308325.1:c.-71+714G>A NP_001295254.1:n.-71+714G>A
NM_022476.2:c.-71+714G>A NP_071921.1:n.-71+714G>A
NM_022476.3:c.-71+714G>A NP_071921.1:n.-71+714G>A
XM_005256095.3:c.-71+267G>A XP_005256152.1:n.-71+267G>A
XM_005256096.3:c.-71+689G>A XP_005256153.1:n.-71+689G>A
XM_005256097.3:c.-71+685G>A XP_005256154.1:n.-71+685G>A
XM_005256098.3:c.-71+1896G>A XP_005256155.1:n.-71+1896G>A
XM_005256095.5:c.-71+267G>A XP_005256152.1:n.-71+267G>A
XM_005256096.5:c.-71+689G>A XP_005256153.1:n.-71+689G>A
XM_005256097.5:c.-71+685G>A XP_005256154.1:n.-71+685G>A
XM_005256098.5:c.-71+1896G>A XP_005256155.1:n.-71+1896G>A
XM_017023564.2:c.-71+267G>A XP_016879053.1:n.-71+267G>A
XM_017023565.1:c.-71+689G>A XP_016879054.1:n.-71+689G>A
XM_017023566.1:c.-71+1896G>A XP_016879055.1:n.-71+1896G>A
NM_022476.4:c.-71+714G>A MANE Select NP_071921.1:n.-71+714G>A
NM_001012398.3:c.-71+685G>A NP_001012398.1:n.-71+685G>A
NM_001308325.2:c.-71+714G>A NP_001295254.1:n.-71+714G>A
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