Canonical Allele Identifier: CA385516790

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975724A>T (hg19) ; chr12:g.57581941A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581941A>T , CM000674.2:g.57581941A>T	GRCh38
NC_000012.11:g.57975724A>T , CM000674.1:g.57975724A>T	GRCh37
NC_000012.10:g.56261991A>T	NCBI36
NG_008155.1:g.36878A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2981A>T MANE Select	ENSP00000408979.2:p.Asn994Ile
ENST00000674619.1:c.3002A>T	ENSP00000502270.1:p.Asn1001Ile
ENST00000675697.1:c.72A>T
ENST00000675737.1:n.385A>T
ENST00000675882.1:n.2504A>T
ENST00000675929.1:n.1539A>T
ENST00000676055.1:c.72A>T
ENST00000676437.1:c.6A>T
ENST00000676457.1:c.2876A>T	ENSP00000501588.1:p.Asn959Ile
ENST00000286452.5:c.2714A>T	ENSP00000286452.5:p.Asn905Ile
ENST00000455537.6:c.2981A>T	ENSP00000408979.2:p.Asn994Ile
ENST00000552227.1:n.264A>T
NM_004984.2:c.2981A>T	NP_004975.2:p.Asn994Ile
NM_001354705.1:c.2714A>T	NP_001341634.1:p.Asn905Ile
NM_004984.3:c.2981A>T	NP_004975.2:p.Asn994Ile
XR_002957324.1:n.3214A>T
NM_004984.4:c.2981A>T MANE Select	NP_004975.2:p.Asn994Ile
NM_001354705.2:c.2714A>T	NP_001341634.1:p.Asn905Ile