Canonical Allele Identifier: CA15375930
Community Standard Title: NM_016340.6(RAPGEF6):c.1419+190G>A
Gene: RAPGEF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.131498253C>T , CM000667.2:g.131498253C>T GRCh38
NC_000005.9:g.130833946C>T , CM000667.1:g.130833946C>T GRCh37
NC_000005.8:g.130861845C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016340.6:c.1419+190G>A MANE Select NP_057424.3:n.1419+190G>A
ENST00000509018.6:c.1419+190G>A MANE Select ENSP00000421684.1:n.1419+190G>A
NM_001164386.1:c.1419+190G>A NP_001157858.1:n.1419+190G>A
NM_001164386.2:c.1419+190G>A NP_001157858.1:n.1419+190G>A
NM_001164387.1:c.1419+190G>A NP_001157859.1:n.1419+190G>A
NM_001164387.2:c.1419+190G>A NP_001157859.1:n.1419+190G>A
NM_001164388.1:c.1419+190G>A NP_001157860.1:n.1419+190G>A
NM_001164388.2:c.1419+190G>A NP_001157860.1:n.1419+190G>A
NM_001164389.1:c.1419+190G>A NP_001157861.1:n.1419+190G>A
NM_001164389.2:c.1419+190G>A NP_001157861.1:n.1419+190G>A
NM_001164390.1:c.1419+190G>A NP_001157862.1:n.1419+190G>A
NM_001164390.2:c.1419+190G>A NP_001157862.1:n.1419+190G>A
NM_016340.5:c.1419+190G>A NP_057424.3:n.1419+190G>A
ENST00000296859.10:c.1419+190G>A ENSP00000296859.6:n.1419+190G>A
ENST00000308008.10:c.1419+190G>A ENSP00000311419.6:n.1419+190G>A
ENST00000507093.5:c.1419+190G>A ENSP00000426081.2:n.1419+190G>A
ENST00000509018.5:c.1419+190G>A ENSP00000421684.1:n.1419+190G>A
ENST00000510071.5:c.1419+190G>A ENSP00000425389.1:n.1419+190G>A
ENST00000512052.5:c.564+190G>A ENSP00000426910.1:n.564+190G>A
ENST00000514179.5:n.983+190G>A
ENST00000514667.1:c.1569+190G>A ENSP00000426948.1:n.1569+190G>A
ENST00000515170.5:c.1419+190G>A ENSP00000425772.1:n.1419+190G>A
ENST00000627212.2:c.1419+190G>A ENSP00000487439.1:n.1419+190G>A
ENST00000671916.1:c.417+190G>A ENSP00000500379.1:n.417+190G>A