Canonical Allele Identifier: CA480266235
Gene: KIF5A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.57975686A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581903A>G , CM000674.2:g.57581903A>G GRCh38
NC_000012.11:g.57975686A>G , CM000674.1:g.57975686A>G GRCh37
NC_000012.10:g.56261953A>G NCBI36
NG_008155.1:g.36840A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2943A>G MANE Select ENSP00000408979.2:p.Thr981=
ENST00000674619.1:c.2964A>G ENSP00000502270.1:p.Thr988=
ENST00000675697.1:c.34A>G
ENST00000675737.1:n.347A>G
ENST00000675882.1:n.2466A>G
ENST00000675929.1:n.1501A>G
ENST00000676055.1:c.34A>G
ENST00000676457.1:c.2838A>G ENSP00000501588.1:p.Thr946=
ENST00000286452.5:c.2676A>G ENSP00000286452.5:p.Thr892=
ENST00000455537.6:c.2943A>G ENSP00000408979.2:p.Thr981=
ENST00000552227.1:n.226A>G
NM_004984.2:c.2943A>G NP_004975.2:p.Thr981=
NM_001354705.1:c.2676A>G NP_001341634.1:p.Thr892=
NM_004984.3:c.2943A>G NP_004975.2:p.Thr981=
XR_002957324.1:n.3176A>G
NM_004984.4:c.2943A>G MANE Select NP_004975.2:p.Thr981=
NM_001354705.2:c.2676A>G NP_001341634.1:p.Thr892=