Canonical Allele Identifier: CA385516548

Gene: KIF5A

Linked Data

• dbSNP Id: rs1594926584
• MyVariant Identifiers: chr12:g.57975661A>C (hg19) ; chr12:g.57581878A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581878A>C , CM000674.2:g.57581878A>C	GRCh38
NC_000012.11:g.57975661A>C , CM000674.1:g.57975661A>C	GRCh37
NC_000012.10:g.56261928A>C	NCBI36
NG_008155.1:g.36815A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2918A>C MANE Select	ENSP00000408979.2:p.Asn973Thr
ENST00000674619.1:c.2939A>C	ENSP00000502270.1:p.Asn980Thr
ENST00000675697.1:c.9A>C
ENST00000675737.1:n.322A>C
ENST00000675882.1:n.2441A>C
ENST00000675929.1:n.1476A>C
ENST00000676055.1:c.9A>C
ENST00000676457.1:c.2813A>C	ENSP00000501588.1:p.Asn938Thr
ENST00000286452.5:c.2651A>C	ENSP00000286452.5:p.Asn884Thr
ENST00000455537.6:c.2918A>C	ENSP00000408979.2:p.Asn973Thr
ENST00000552227.1:n.201A>C
NM_004984.2:c.2918A>C	NP_004975.2:p.Asn973Thr
NM_001354705.1:c.2651A>C	NP_001341634.1:p.Asn884Thr
NM_004984.3:c.2918A>C	NP_004975.2:p.Asn973Thr
XR_002957324.1:n.3151A>C
NM_004984.4:c.2918A>C MANE Select	NP_004975.2:p.Asn973Thr
NM_001354705.2:c.2651A>C	NP_001341634.1:p.Asn884Thr