Canonical Allele Identifier: CA6652946
Gene: KIF5A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57575666G>A
GRCh37 chr12:g.57969449G>A
gnomAD v2:
12:57969449 G / A
gnomAD v3:
12:57575666 G / A
gnomAD v4:
chr12-57575666-G-A
Joint Max Group AF 0.00017087 (EAS)
Genomes Max Group AF 0.00006816 (EAS)
Exomes Max Group AF 0.00015498 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57575666G>A , CM000674.2:g.57575666G>A GRCh38
NC_000012.11:g.57969449G>A , CM000674.1:g.57969449G>A GRCh37
NC_000012.10:g.56255716G>A NCBI36
NG_008155.1:g.30603G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.1932G>A MANE Select ENSP00000408979.2:p.Thr644=
ENST00000674619.1:c.1932G>A ENSP00000502270.1:p.Thr644=
ENST00000675299.1:c.236+347G>A ENSP00000501888.1:n.236+347G>A
ENST00000675882.1:n.919G>A
ENST00000675929.1:n.490G>A
ENST00000675984.1:n.1174G>A
ENST00000676081.1:n.1078G>A
ENST00000676457.1:c.1827G>A ENSP00000501588.1:p.Thr609=
ENST00000286452.5:c.1665G>A ENSP00000286452.5:p.Thr555=
ENST00000455537.6:c.1932G>A ENSP00000408979.2:p.Thr644=
NM_004984.2:c.1932G>A NP_004975.2:p.Thr644=
NM_001354705.1:c.1665G>A NP_001341634.1:p.Thr555=
NM_004984.3:c.1932G>A NP_004975.2:p.Thr644=
XR_002957324.1:n.2165G>A
NM_004984.4:c.1932G>A MANE Select NP_004975.2:p.Thr644=
NM_001354705.2:c.1665G>A NP_001341634.1:p.Thr555=
Search 100 bp 5'
Search 100 bp 3'