Canonical Allele Identifier: CA385516545

Gene: KIF5A

Linked Data

• dbSNP Id: rs1565705255
• gnomAD v3: 12-57581875-C-T
• gnomAD v4: 12-57581875-C-T
• MyVariant Identifiers: chr12:g.57975658C>T (hg19) ; chr12:g.57581875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581875C>T , CM000674.2:g.57581875C>T	GRCh38
NC_000012.11:g.57975658C>T , CM000674.1:g.57975658C>T	GRCh37
NC_000012.10:g.56261925C>T	NCBI36
NG_008155.1:g.36812C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2915C>T MANE Select	ENSP00000408979.2:p.Ala972Val
ENST00000674619.1:c.2936C>T	ENSP00000502270.1:p.Ala979Val
ENST00000675697.1:c.6C>T
ENST00000675737.1:n.319C>T
ENST00000675882.1:n.2438C>T
ENST00000675929.1:n.1473C>T
ENST00000676055.1:c.6C>T
ENST00000676457.1:c.2810C>T	ENSP00000501588.1:p.Ala937Val
ENST00000286452.5:c.2648C>T	ENSP00000286452.5:p.Ala883Val
ENST00000455537.6:c.2915C>T	ENSP00000408979.2:p.Ala972Val
ENST00000552227.1:n.198C>T
NM_004984.2:c.2915C>T	NP_004975.2:p.Ala972Val
NM_001354705.1:c.2648C>T	NP_001341634.1:p.Ala883Val
NM_004984.3:c.2915C>T	NP_004975.2:p.Ala972Val
XR_002957324.1:n.3148C>T
NM_004984.4:c.2915C>T MANE Select	NP_004975.2:p.Ala972Val
NM_001354705.2:c.2648C>T	NP_001341634.1:p.Ala883Val