Canonical Allele Identifier: CA385516808

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57581945-G-A
• MyVariant Identifiers: chr12:g.57975728G>A (hg19) ; chr12:g.57581945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581945G>A , CM000674.2:g.57581945G>A	GRCh38
NC_000012.11:g.57975728G>A , CM000674.1:g.57975728G>A	GRCh37
NC_000012.10:g.56261995G>A	NCBI36
NG_008155.1:g.36882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2985G>A MANE Select	ENSP00000408979.2:p.Met995Ile
ENST00000674619.1:c.3006G>A	ENSP00000502270.1:p.Met1002Ile
ENST00000675697.1:c.76G>A
ENST00000675737.1:n.389G>A
ENST00000675882.1:n.2508G>A
ENST00000675929.1:n.1543G>A
ENST00000676055.1:c.76G>A
ENST00000676437.1:c.10G>A
ENST00000676457.1:c.2880G>A	ENSP00000501588.1:p.Met960Ile
ENST00000286452.5:c.2718G>A	ENSP00000286452.5:p.Met906Ile
ENST00000455537.6:c.2985G>A	ENSP00000408979.2:p.Met995Ile
ENST00000552227.1:n.268G>A
NM_004984.2:c.2985G>A	NP_004975.2:p.Met995Ile
NM_001354705.1:c.2718G>A	NP_001341634.1:p.Met906Ile
NM_004984.3:c.2985G>A	NP_004975.2:p.Met995Ile
XR_002957324.1:n.3218G>A
NM_004984.4:c.2985G>A MANE Select	NP_004975.2:p.Met995Ile
NM_001354705.2:c.2718G>A	NP_001341634.1:p.Met906Ile