Canonical Allele Identifier: CA385516643

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975690T>A (hg19) ; chr12:g.57581907T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581907T>A , CM000674.2:g.57581907T>A	GRCh38
NC_000012.11:g.57975690T>A , CM000674.1:g.57975690T>A	GRCh37
NC_000012.10:g.56261957T>A	NCBI36
NG_008155.1:g.36844T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2947T>A MANE Select	ENSP00000408979.2:p.Ser983Thr
ENST00000674619.1:c.2968T>A	ENSP00000502270.1:p.Ser990Thr
ENST00000675697.1:c.38T>A
ENST00000675737.1:n.351T>A
ENST00000675882.1:n.2470T>A
ENST00000675929.1:n.1505T>A
ENST00000676055.1:c.38T>A
ENST00000676457.1:c.2842T>A	ENSP00000501588.1:p.Ser948Thr
ENST00000286452.5:c.2680T>A	ENSP00000286452.5:p.Ser894Thr
ENST00000455537.6:c.2947T>A	ENSP00000408979.2:p.Ser983Thr
ENST00000552227.1:n.230T>A
NM_004984.2:c.2947T>A	NP_004975.2:p.Ser983Thr
NM_001354705.1:c.2680T>A	NP_001341634.1:p.Ser894Thr
NM_004984.3:c.2947T>A	NP_004975.2:p.Ser983Thr
XR_002957324.1:n.3180T>A
NM_004984.4:c.2947T>A MANE Select	NP_004975.2:p.Ser983Thr
NM_001354705.2:c.2680T>A	NP_001341634.1:p.Ser894Thr