Canonical Allele Identifier: CA385499933

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57568993-C-A
• MyVariant Identifiers: chr12:g.57962776C>A (hg19) ; chr12:g.57568993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568993C>A , CM000674.2:g.57568993C>A	GRCh38
NC_000012.11:g.57962776C>A , CM000674.1:g.57962776C>A	GRCh37
NC_000012.10:g.56249043C>A	NCBI36
NG_008155.1:g.23930C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.745C>A MANE Select	ENSP00000408979.2:p.Leu249Met
ENST00000674619.1:c.745C>A	ENSP00000502270.1:p.Leu249Met
ENST00000676457.1:c.640C>A	ENSP00000501588.1:p.Leu214Met
ENST00000286452.5:c.478C>A	ENSP00000286452.5:p.Leu160Met
ENST00000455537.6:c.745C>A	ENSP00000408979.2:p.Leu249Met
NM_004984.2:c.745C>A	NP_004975.2:p.Leu249Met
NM_001354705.1:c.478C>A	NP_001341634.1:p.Leu160Met
NM_004984.3:c.745C>A	NP_004975.2:p.Leu249Met
XR_002957324.1:n.978C>A
NM_004984.4:c.745C>A MANE Select	NP_004975.2:p.Leu249Met
NM_001354705.2:c.478C>A	NP_001341634.1:p.Leu160Met