Canonical Allele Identifier: CA480266239

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975689T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581906T>G , CM000674.2:g.57581906T>G	GRCh38
NC_000012.11:g.57975689T>G , CM000674.1:g.57975689T>G	GRCh37
NC_000012.10:g.56261956T>G	NCBI36
NG_008155.1:g.36843T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2946T>G MANE Select	ENSP00000408979.2:p.Ser982=
ENST00000674619.1:c.2967T>G	ENSP00000502270.1:p.Ser989=
ENST00000675697.1:c.37T>G
ENST00000675737.1:n.350T>G
ENST00000675882.1:n.2469T>G
ENST00000675929.1:n.1504T>G
ENST00000676055.1:c.37T>G
ENST00000676457.1:c.2841T>G	ENSP00000501588.1:p.Ser947=
ENST00000286452.5:c.2679T>G	ENSP00000286452.5:p.Ser893=
ENST00000455537.6:c.2946T>G	ENSP00000408979.2:p.Ser982=
ENST00000552227.1:n.229T>G
NM_004984.2:c.2946T>G	NP_004975.2:p.Ser982=
NM_001354705.1:c.2679T>G	NP_001341634.1:p.Ser893=
NM_004984.3:c.2946T>G	NP_004975.2:p.Ser982=
XR_002957324.1:n.3179T>G
NM_004984.4:c.2946T>G MANE Select	NP_004975.2:p.Ser982=
NM_001354705.2:c.2679T>G	NP_001341634.1:p.Ser893=