Canonical Allele Identifier: CA2619471093

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57567727-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567727C>A , CM000674.2:g.57567727C>A	GRCh38
NC_000012.11:g.57961510C>A , CM000674.1:g.57961510C>A	GRCh37
NC_000012.10:g.56247777C>A	NCBI36
NG_008155.1:g.22664C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.714+109C>A MANE Select	ENSP00000408979.2:n.714+109C>A
ENST00000674619.1:c.714+109C>A	ENSP00000502270.1:n.714+109C>A
ENST00000676457.1:c.609+109C>A	ENSP00000501588.1:n.609+109C>A
ENST00000286452.5:c.447+109C>A	ENSP00000286452.5:n.447+109C>A
ENST00000455537.6:c.714+109C>A	ENSP00000408979.2:n.714+109C>A
NM_004984.2:c.714+109C>A	NP_004975.2:n.714+109C>A
NM_001354705.1:c.447+109C>A	NP_001341634.1:n.447+109C>A
NM_004984.3:c.714+109C>A	NP_004975.2:n.714+109C>A
XR_002957324.1:n.947+109C>A
NM_004984.4:c.714+109C>A MANE Select	NP_004975.2:n.714+109C>A
NM_001354705.2:c.447+109C>A	NP_001341634.1:n.447+109C>A