Canonical Allele Identifier: CA385495241
Community Standard Title: NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57564479A>G , CM000674.2:g.57564479A>G GRCh38
NC_000012.11:g.57958262A>G , CM000674.1:g.57958262A>G GRCh37
NC_000012.10:g.56244529A>G NCBI36
NG_008155.1:g.19416A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.416A>G MANE Select NP_004975.2:p.Tyr139Cys
ENST00000455537.7:c.416A>G MANE Select ENSP00000408979.2:p.Tyr139Cys
NM_001354705.1:c.149A>G NP_001341634.1:p.Tyr50Cys
NM_001354705.2:c.149A>G NP_001341634.1:p.Tyr50Cys
NM_004984.2:c.416A>G NP_004975.2:p.Tyr139Cys
NM_004984.3:c.416A>G NP_004975.2:p.Tyr139Cys
ENST00000286452.5:c.149A>G ENSP00000286452.5:p.Tyr50Cys
ENST00000455537.6:c.416A>G ENSP00000408979.2:p.Tyr139Cys
ENST00000674619.1:c.416A>G ENSP00000502270.1:p.Tyr139Cys
ENST00000676457.1:c.311A>G ENSP00000501588.1:p.Tyr104Cys
XR_002957324.1:n.649A>G