Canonical Allele Identifier: CA385516746

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975715A>G (hg19) ; chr12:g.57581932A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581932A>G , CM000674.2:g.57581932A>G	GRCh38
NC_000012.11:g.57975715A>G , CM000674.1:g.57975715A>G	GRCh37
NC_000012.10:g.56261982A>G	NCBI36
NG_008155.1:g.36869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2972A>G MANE Select	ENSP00000408979.2:p.Gln991Arg
ENST00000674619.1:c.2993A>G	ENSP00000502270.1:p.Gln998Arg
ENST00000675697.1:c.63A>G
ENST00000675737.1:n.376A>G
ENST00000675882.1:n.2495A>G
ENST00000675929.1:n.1530A>G
ENST00000676055.1:c.63A>G
ENST00000676457.1:c.2867A>G	ENSP00000501588.1:p.Gln956Arg
ENST00000286452.5:c.2705A>G	ENSP00000286452.5:p.Gln902Arg
ENST00000455537.6:c.2972A>G	ENSP00000408979.2:p.Gln991Arg
ENST00000552227.1:n.255A>G
NM_004984.2:c.2972A>G	NP_004975.2:p.Gln991Arg
NM_001354705.1:c.2705A>G	NP_001341634.1:p.Gln902Arg
NM_004984.3:c.2972A>G	NP_004975.2:p.Gln991Arg
XR_002957324.1:n.3205A>G
NM_004984.4:c.2972A>G MANE Select	NP_004975.2:p.Gln991Arg
NM_001354705.2:c.2705A>G	NP_001341634.1:p.Gln902Arg