Canonical Allele Identifier: CA385506100

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57572094G>T , CM000674.2:g.57572094G>T	GRCh38
NC_000012.11:g.57965877G>T , CM000674.1:g.57965877G>T	GRCh37
NC_000012.10:g.56252144G>T	NCBI36
NG_008155.1:g.27031G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.1396G>T MANE Select	NP_004975.2:p.Val466Phe
ENST00000455537.7:c.1396G>T MANE Select	ENSP00000408979.2:p.Val466Phe
NM_001354705.1:c.1129G>T	NP_001341634.1:p.Val377Phe
NM_001354705.2:c.1129G>T	NP_001341634.1:p.Val377Phe
NM_004984.2:c.1396G>T	NP_004975.2:p.Val466Phe
NM_004984.3:c.1396G>T	NP_004975.2:p.Val466Phe
ENST00000286452.5:c.1129G>T	ENSP00000286452.5:p.Val377Phe
ENST00000455537.6:c.1396G>T	ENSP00000408979.2:p.Val466Phe
ENST00000674619.1:c.1396G>T	ENSP00000502270.1:p.Val466Phe
ENST00000675882.1:n.383G>T
ENST00000675984.1:n.326G>T
ENST00000676081.1:n.542G>T
ENST00000676242.1:n.34G>T
ENST00000676352.1:c.34G>T	ENSP00000501978.1:p.Val12Phe
ENST00000676457.1:c.1291G>T	ENSP00000501588.1:p.Val431Phe
XR_002957324.1:n.1629G>T