Canonical Allele Identifier: CA2038916550
Community Standard Title: NM_004984.4(KIF5A):c.*1226C=
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57585407C= , CM000674.2:g.57585407C= GRCh38
NC_000012.11:g.57979190C= , CM000674.1:g.57979190C= GRCh37
NC_000012.10:g.56265457C= NCBI36
NG_008155.1:g.40344C=

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.*1226C= MANE Select NP_004975.2:n.*1226C=
ENST00000455537.7:c.*1226C= MANE Select ENSP00000408979.2:n.*1226C=
NM_001354705.1:c.*1226C= NP_001341634.1:n.*1226C=
NM_001354705.2:c.*1226C= NP_001341634.1:n.*1226C=
NM_004984.3:c.*1226C= NP_004975.2:n.*1226C=
ENST00000455537.6:c.*1226C= ENSP00000408979.2:n.*1226C=
ENST00000674619.1:c.*1226C= ENSP00000502270.1:n.*1226C=
ENST00000674980.1:c.393C=
ENST00000675433.1:c.116-199C=
ENST00000675737.1:n.2849C=
ENST00000675882.1:n.4319C=
ENST00000676437.1:c.2823C=
ENST00000676457.1:c.*1226C= ENSP00000501588.1:n.*1226C=
XR_002957324.1:n.5029C=