Canonical Allele Identifier: CA14265734
Gene: AKTIP HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.53493869G>T , CM000678.2:g.53493869G>T GRCh38
NC_000016.9:g.53527781G>T , CM000678.1:g.53527781G>T GRCh37
NC_000016.8:g.52085282G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000394657.12:c.710+269C>A MANE Select ENSP00000378152.6:n.710+269C>A
ENST00000300245.8:c.710+269C>A ENSP00000300245.4:n.710+269C>A
ENST00000394657.11:c.710+269C>A ENSP00000378152.6:n.710+269C>A
ENST00000570004.5:c.710+269C>A ENSP00000455874.1:n.710+269C>A
ENST00000571523.2:n.100C>A
NM_001012398.1:c.710+269C>A NP_001012398.1:n.710+269C>A
NM_001012398.2:c.710+269C>A NP_001012398.1:n.710+269C>A
NM_001308325.1:c.710+269C>A NP_001295254.1:n.710+269C>A
NM_022476.2:c.710+269C>A NP_071921.1:n.710+269C>A
NM_022476.3:c.710+269C>A NP_071921.1:n.710+269C>A
XM_005256095.3:c.710+269C>A XP_005256152.1:n.710+269C>A
XM_005256096.3:c.710+269C>A XP_005256153.1:n.710+269C>A
XM_005256097.3:c.710+269C>A XP_005256154.1:n.710+269C>A
XM_005256098.3:c.710+269C>A XP_005256155.1:n.710+269C>A
XM_005256095.5:c.710+269C>A XP_005256152.1:n.710+269C>A
XM_005256096.5:c.710+269C>A XP_005256153.1:n.710+269C>A
XM_005256097.5:c.710+269C>A XP_005256154.1:n.710+269C>A
XM_005256098.5:c.710+269C>A XP_005256155.1:n.710+269C>A
XM_017023564.2:c.710+269C>A XP_016879053.1:n.710+269C>A
XM_017023565.1:c.710+269C>A XP_016879054.1:n.710+269C>A
XM_017023566.1:c.710+269C>A XP_016879055.1:n.710+269C>A
NM_022476.4:c.710+269C>A MANE Select NP_071921.1:n.710+269C>A
NM_001012398.3:c.710+269C>A NP_001012398.1:n.710+269C>A
NM_001308325.2:c.710+269C>A NP_001295254.1:n.710+269C>A