Canonical Allele Identifier: CA2201143825
Community Standard Title: NM_021168.5(RAB40C):c.143-5873T=
Gene: RAB40C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.611335T= , CM000678.2:g.611335T= GRCh38
NC_000016.9:g.661335T= , CM000678.1:g.661335T= GRCh37
NC_000016.8:g.601336T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_021168.5:c.143-5873T= MANE Select NP_066991.3:n.143-5873T=
ENST00000248139.8:c.143-5873T= MANE Select ENSP00000248139.3:n.143-5873T=
NM_001172663.1:c.143-5873T= NP_001166134.1:n.143-5873T=
NM_001172663.2:c.143-5873T= NP_001166134.1:n.143-5873T=
NM_001172664.1:c.143-5873T= NP_001166135.1:n.143-5873T=
NM_001172664.2:c.143-5873T= NP_001166135.1:n.143-5873T=
NM_001172665.1:c.143-5873T= NP_001166136.1:n.143-5873T=
NM_001172665.2:c.143-5873T= NP_001166136.1:n.143-5873T=
NM_001172666.1:c.143-5873T= NP_001166137.1:n.143-5873T=
NM_001172666.2:c.143-5873T= NP_001166137.1:n.143-5873T=
NM_021168.4:c.143-5873T= NP_066991.3:n.143-5873T=
ENST00000248139.7:c.143-5873T= ENSP00000248139.3:n.143-5873T=
ENST00000509637.6:c.271-5873T=
ENST00000535977.5:c.143-5873T= ENSP00000438492.1:n.143-5873T=
ENST00000538492.5:c.143-5873T= ENSP00000438382.1:n.143-5873T=
ENST00000539661.5:c.143-5873T= ENSP00000445050.1:n.143-5873T=
ENST00000563109.1:c.103-5873T=
ENST00000565511.5:c.143-5873T= ENSP00000457845.1:n.143-5873T=
ENST00000566290.5:c.143-5873T= ENSP00000455029.1:n.143-5873T=
ENST00000568586.5:c.143-5873T= ENSP00000457116.1:n.143-5873T=
ENST00000569575.5:c.143-5873T= ENSP00000454347.1:n.143-5873T=