Canonical Allele Identifier: CA2580601774

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57574955G>C , CM000674.2:g.57574955G>C	GRCh38
NC_000012.11:g.57968738G>C , CM000674.1:g.57968738G>C	GRCh37
NC_000012.10:g.56255005G>C	NCBI36
NG_008155.1:g.29892G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.1717-129G>C MANE Select	ENSP00000408979.2:n.1717-129G>C
ENST00000674619.1:c.1717-129G>C	ENSP00000502270.1:n.1717-129G>C
ENST00000675629.1:c.46-129G>C	ENSP00000502531.1:n.46-129G>C
ENST00000675882.1:n.704-129G>C
ENST00000675929.1:n.275-129G>C
ENST00000675984.1:n.959-129G>C
ENST00000676081.1:n.863-129G>C
ENST00000676352.1:c.208-129G>C	ENSP00000501978.1:n.208-129G>C
ENST00000676457.1:c.1612-129G>C	ENSP00000501588.1:n.1612-129G>C
ENST00000286452.5:c.1450-129G>C	ENSP00000286452.5:n.1450-129G>C
ENST00000455537.6:c.1717-129G>C	ENSP00000408979.2:n.1717-129G>C
NM_004984.2:c.1717-129G>C	NP_004975.2:n.1717-129G>C
NM_001354705.1:c.1450-129G>C	NP_001341634.1:n.1450-129G>C
NM_004984.3:c.1717-129G>C	NP_004975.2:n.1717-129G>C
XR_002957324.1:n.1950-129G>C
NM_004984.4:c.1717-129G>C MANE Select	NP_004975.2:n.1717-129G>C
NM_001354705.2:c.1450-129G>C	NP_001341634.1:n.1450-129G>C