Canonical Allele Identifier: CA2619479433

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57581721-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581721C>G , CM000674.2:g.57581721C>G	GRCh38
NC_000012.11:g.57975504C>G , CM000674.1:g.57975504C>G	GRCh37
NC_000012.10:g.56261771C>G	NCBI36
NG_008155.1:g.36658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2910-149C>G MANE Select	ENSP00000408979.2:n.2910-149C>G
ENST00000674619.1:c.2931-149C>G	ENSP00000502270.1:n.2931-149C>G
ENST00000675737.1:n.314-149C>G
ENST00000675882.1:n.2284C>G
ENST00000675929.1:n.1468-149C>G
ENST00000676457.1:c.2805-149C>G	ENSP00000501588.1:n.2805-149C>G
ENST00000286452.5:c.2643-149C>G	ENSP00000286452.5:n.2643-149C>G
ENST00000455537.6:c.2910-149C>G	ENSP00000408979.2:n.2910-149C>G
ENST00000552227.1:n.44C>G
NM_004984.2:c.2910-149C>G	NP_004975.2:n.2910-149C>G
NM_001354705.1:c.2643-149C>G	NP_001341634.1:n.2643-149C>G
NM_004984.3:c.2910-149C>G	NP_004975.2:n.2910-149C>G
XR_002957324.1:n.3143-149C>G
NM_004984.4:c.2910-149C>G MANE Select	NP_004975.2:n.2910-149C>G
NM_001354705.2:c.2643-149C>G	NP_001341634.1:n.2643-149C>G