Canonical Allele Identifier: CA385511267
Community Standard Title: NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57576300G>A , CM000674.2:g.57576300G>A GRCh38
NC_000012.11:g.57970083G>A , CM000674.1:g.57970083G>A GRCh37
NC_000012.10:g.56256350G>A NCBI36
NG_008155.1:g.31237G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.2120G>A MANE Select NP_004975.2:p.Arg707Gln
ENST00000455537.7:c.2120G>A MANE Select ENSP00000408979.2:p.Arg707Gln
NM_001354705.1:c.1853G>A NP_001341634.1:p.Arg618Gln
NM_001354705.2:c.1853G>A NP_001341634.1:p.Arg618Gln
NM_004984.2:c.2120G>A NP_004975.2:p.Arg707Gln
NM_004984.3:c.2120G>A NP_004975.2:p.Arg707Gln
ENST00000286452.5:c.1853G>A ENSP00000286452.5:p.Arg618Gln
ENST00000455537.6:c.2120G>A ENSP00000408979.2:p.Arg707Gln
ENST00000674619.1:c.2120G>A ENSP00000502270.1:p.Arg707Gln
ENST00000675299.1:c.268G>A ENSP00000501888.1:n.268G>A
ENST00000675882.1:n.1107G>A
ENST00000675929.1:n.678G>A
ENST00000675984.1:n.1808G>A
ENST00000676081.1:n.1383G>A
ENST00000676457.1:c.2015G>A ENSP00000501588.1:p.Arg672Gln
XR_002957324.1:n.2353G>A