Canonical Allele Identifier: CA2619479700

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57581813-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581813C>A , CM000674.2:g.57581813C>A	GRCh38
NC_000012.11:g.57975596C>A , CM000674.1:g.57975596C>A	GRCh37
NC_000012.10:g.56261863C>A	NCBI36
NG_008155.1:g.36750C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2910-57C>A MANE Select	ENSP00000408979.2:n.2910-57C>A
ENST00000674619.1:c.2931-57C>A	ENSP00000502270.1:n.2931-57C>A
ENST00000675737.1:n.314-57C>A
ENST00000675882.1:n.2376C>A
ENST00000675929.1:n.1468-57C>A
ENST00000676457.1:c.2805-57C>A	ENSP00000501588.1:n.2805-57C>A
ENST00000286452.5:c.2643-57C>A	ENSP00000286452.5:n.2643-57C>A
ENST00000455537.6:c.2910-57C>A	ENSP00000408979.2:n.2910-57C>A
ENST00000552227.1:n.136C>A
NM_004984.2:c.2910-57C>A	NP_004975.2:n.2910-57C>A
NM_001354705.1:c.2643-57C>A	NP_001341634.1:n.2643-57C>A
NM_004984.3:c.2910-57C>A	NP_004975.2:n.2910-57C>A
XR_002957324.1:n.3143-57C>A
NM_004984.4:c.2910-57C>A MANE Select	NP_004975.2:n.2910-57C>A
NM_001354705.2:c.2643-57C>A	NP_001341634.1:n.2643-57C>A