Canonical Allele Identifier: CA2619479358

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57581698-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581698A>G , CM000674.2:g.57581698A>G	GRCh38
NC_000012.11:g.57975481A>G , CM000674.1:g.57975481A>G	GRCh37
NC_000012.10:g.56261748A>G	NCBI36
NG_008155.1:g.36635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2909+130A>G MANE Select	ENSP00000408979.2:n.2909+130A>G
ENST00000674619.1:c.2930+130A>G	ENSP00000502270.1:n.2930+130A>G
ENST00000675737.1:n.313+130A>G
ENST00000675882.1:n.2261A>G
ENST00000675929.1:n.1467+130A>G
ENST00000676457.1:c.2804+130A>G	ENSP00000501588.1:n.2804+130A>G
ENST00000286452.5:c.2642+130A>G	ENSP00000286452.5:n.2642+130A>G
ENST00000455537.6:c.2909+130A>G	ENSP00000408979.2:n.2909+130A>G
ENST00000552227.1:n.21A>G
NM_004984.2:c.2909+130A>G	NP_004975.2:n.2909+130A>G
NM_001354705.1:c.2642+130A>G	NP_001341634.1:n.2642+130A>G
NM_004984.3:c.2909+130A>G	NP_004975.2:n.2909+130A>G
XR_002957324.1:n.3142+130A>G
NM_004984.4:c.2909+130A>G MANE Select	NP_004975.2:n.2909+130A>G
NM_001354705.2:c.2642+130A>G	NP_001341634.1:n.2642+130A>G