Canonical Allele Identifier: CA385500551

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57569286-A-G
• MyVariant Identifiers: chr12:g.57963069A>G (hg19) ; chr12:g.57569286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569286A>G , CM000674.2:g.57569286A>G	GRCh38
NC_000012.11:g.57963069A>G , CM000674.1:g.57963069A>G	GRCh37
NC_000012.10:g.56249336A>G	NCBI36
NG_008155.1:g.24223A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.850A>G MANE Select	ENSP00000408979.2:p.Met284Val
ENST00000674619.1:c.850A>G	ENSP00000502270.1:p.Met284Val
ENST00000676457.1:c.745A>G	ENSP00000501588.1:p.Met249Val
ENST00000286452.5:c.583A>G	ENSP00000286452.5:p.Met195Val
ENST00000455537.6:c.850A>G	ENSP00000408979.2:p.Met284Val
NM_004984.2:c.850A>G	NP_004975.2:p.Met284Val
NM_001354705.1:c.583A>G	NP_001341634.1:p.Met195Val
NM_004984.3:c.850A>G	NP_004975.2:p.Met284Val
XR_002957324.1:n.1083A>G
NM_004984.4:c.850A>G MANE Select	NP_004975.2:p.Met284Val
NM_001354705.2:c.583A>G	NP_001341634.1:p.Met195Val