Canonical Allele Identifier: CA480266243

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2766405
• ClinVar RCV Id: RCV003590435
• MyVariant Identifiers: chr12:g.57975695C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581912C>A , CM000674.2:g.57581912C>A	GRCh38
NC_000012.11:g.57975695C>A , CM000674.1:g.57975695C>A	GRCh37
NC_000012.10:g.56261962C>A	NCBI36
NG_008155.1:g.36849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2952C>A MANE Select	ENSP00000408979.2:p.Gly984=
ENST00000674619.1:c.2973C>A	ENSP00000502270.1:p.Gly991=
ENST00000675697.1:c.43C>A
ENST00000675737.1:n.356C>A
ENST00000675882.1:n.2475C>A
ENST00000675929.1:n.1510C>A
ENST00000676055.1:c.43C>A
ENST00000676457.1:c.2847C>A	ENSP00000501588.1:p.Gly949=
ENST00000286452.5:c.2685C>A	ENSP00000286452.5:p.Gly895=
ENST00000455537.6:c.2952C>A	ENSP00000408979.2:p.Gly984=
ENST00000552227.1:n.235C>A
NM_004984.2:c.2952C>A	NP_004975.2:p.Gly984=
NM_001354705.1:c.2685C>A	NP_001341634.1:p.Gly895=
NM_004984.3:c.2952C>A	NP_004975.2:p.Gly984=
XR_002957324.1:n.3185C>A
NM_004984.4:c.2952C>A MANE Select	NP_004975.2:p.Gly984=
NM_001354705.2:c.2685C>A	NP_001341634.1:p.Gly895=