Canonical Allele Identifier: CA2619471994

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57569149-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569149C>G , CM000674.2:g.57569149C>G	GRCh38
NC_000012.11:g.57962932C>G , CM000674.1:g.57962932C>G	GRCh37
NC_000012.10:g.56249199C>G	NCBI36
NG_008155.1:g.24086C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.819+82C>G MANE Select	ENSP00000408979.2:n.819+82C>G
ENST00000674619.1:c.819+82C>G	ENSP00000502270.1:n.819+82C>G
ENST00000676457.1:c.714+82C>G	ENSP00000501588.1:n.714+82C>G
ENST00000286452.5:c.552+82C>G	ENSP00000286452.5:n.552+82C>G
ENST00000455537.6:c.819+82C>G	ENSP00000408979.2:n.819+82C>G
NM_004984.2:c.819+82C>G	NP_004975.2:n.819+82C>G
NM_001354705.1:c.552+82C>G	NP_001341634.1:n.552+82C>G
NM_004984.3:c.819+82C>G	NP_004975.2:n.819+82C>G
XR_002957324.1:n.1052+82C>G
NM_004984.4:c.819+82C>G MANE Select	NP_004975.2:n.819+82C>G
NM_001354705.2:c.552+82C>G	NP_001341634.1:n.552+82C>G