Canonical Allele Identifier: CA385500557

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57963070T>G (hg19) ; chr12:g.57569287T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569287T>G , CM000674.2:g.57569287T>G	GRCh38
NC_000012.11:g.57963070T>G , CM000674.1:g.57963070T>G	GRCh37
NC_000012.10:g.56249337T>G	NCBI36
NG_008155.1:g.24224T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.851T>G MANE Select	ENSP00000408979.2:p.Met284Arg
ENST00000674619.1:c.851T>G	ENSP00000502270.1:p.Met284Arg
ENST00000676457.1:c.746T>G	ENSP00000501588.1:p.Met249Arg
ENST00000286452.5:c.584T>G	ENSP00000286452.5:p.Met195Arg
ENST00000455537.6:c.851T>G	ENSP00000408979.2:p.Met284Arg
NM_004984.2:c.851T>G	NP_004975.2:p.Met284Arg
NM_001354705.1:c.584T>G	NP_001341634.1:p.Met195Arg
NM_004984.3:c.851T>G	NP_004975.2:p.Met284Arg
XR_002957324.1:n.1084T>G
NM_004984.4:c.851T>G MANE Select	NP_004975.2:p.Met284Arg
NM_001354705.2:c.584T>G	NP_001341634.1:p.Met195Arg