Canonical Allele Identifier: CA385500754

Gene: KIF5A

Linked Data

• dbSNP Id: rs1290797018
• MyVariant Identifiers: chr12:g.57963118T>C (hg19) ; chr12:g.57569335T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569335T>C , CM000674.2:g.57569335T>C	GRCh38
NC_000012.11:g.57963118T>C , CM000674.1:g.57963118T>C	GRCh37
NC_000012.10:g.56249385T>C	NCBI36
NG_008155.1:g.24272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.899T>C MANE Select	ENSP00000408979.2:p.Met300Thr
ENST00000674619.1:c.899T>C	ENSP00000502270.1:p.Met300Thr
ENST00000676081.1:n.45T>C
ENST00000676457.1:c.794T>C	ENSP00000501588.1:p.Met265Thr
ENST00000286452.5:c.632T>C	ENSP00000286452.5:p.Met211Thr
ENST00000455537.6:c.899T>C	ENSP00000408979.2:p.Met300Thr
NM_004984.2:c.899T>C	NP_004975.2:p.Met300Thr
NM_001354705.1:c.632T>C	NP_001341634.1:p.Met211Thr
NM_004984.3:c.899T>C	NP_004975.2:p.Met300Thr
XR_002957324.1:n.1132T>C
NM_004984.4:c.899T>C MANE Select	NP_004975.2:p.Met300Thr
NM_001354705.2:c.632T>C	NP_001341634.1:p.Met211Thr