Canonical Allele Identifier: CA385500021

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57962795T>A (hg19) ; chr12:g.57569012T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569012T>A , CM000674.2:g.57569012T>A	GRCh38
NC_000012.11:g.57962795T>A , CM000674.1:g.57962795T>A	GRCh37
NC_000012.10:g.56249062T>A	NCBI36
NG_008155.1:g.23949T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.764T>A MANE Select	ENSP00000408979.2:p.Ile255Asn
ENST00000674619.1:c.764T>A	ENSP00000502270.1:p.Ile255Asn
ENST00000676457.1:c.659T>A	ENSP00000501588.1:p.Ile220Asn
ENST00000286452.5:c.497T>A	ENSP00000286452.5:p.Ile166Asn
ENST00000455537.6:c.764T>A	ENSP00000408979.2:p.Ile255Asn
NM_004984.2:c.764T>A	NP_004975.2:p.Ile255Asn
NM_001354705.1:c.497T>A	NP_001341634.1:p.Ile166Asn
NM_004984.3:c.764T>A	NP_004975.2:p.Ile255Asn
XR_002957324.1:n.997T>A
NM_004984.4:c.764T>A MANE Select	NP_004975.2:p.Ile255Asn
NM_001354705.2:c.497T>A	NP_001341634.1:p.Ile166Asn