Canonical Allele Identifier: CA385500960

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57569376-A-C
• MyVariant Identifiers: chr12:g.57963159A>C (hg19) ; chr12:g.57569376A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569376A>C , CM000674.2:g.57569376A>C	GRCh38
NC_000012.11:g.57963159A>C , CM000674.1:g.57963159A>C	GRCh37
NC_000012.10:g.56249426A>C	NCBI36
NG_008155.1:g.24313A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.940A>C MANE Select	ENSP00000408979.2:p.Thr314Pro
ENST00000674619.1:c.940A>C	ENSP00000502270.1:p.Thr314Pro
ENST00000676081.1:n.86A>C
ENST00000676457.1:c.835A>C	ENSP00000501588.1:p.Thr279Pro
ENST00000286452.5:c.673A>C	ENSP00000286452.5:p.Thr225Pro
ENST00000455537.6:c.940A>C	ENSP00000408979.2:p.Thr314Pro
NM_004984.2:c.940A>C	NP_004975.2:p.Thr314Pro
NM_001354705.1:c.673A>C	NP_001341634.1:p.Thr225Pro
NM_004984.3:c.940A>C	NP_004975.2:p.Thr314Pro
XR_002957324.1:n.1173A>C
NM_004984.4:c.940A>C MANE Select	NP_004975.2:p.Thr314Pro
NM_001354705.2:c.673A>C	NP_001341634.1:p.Thr225Pro