Canonical Allele Identifier: CA2038925696
Community Standard Title: NM_004984.4(KIF5A):c.827A= (p.Tyr276=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57569263A= , CM000674.2:g.57569263A= GRCh38
NC_000012.11:g.57963046A= , CM000674.1:g.57963046A= GRCh37
NC_000012.10:g.56249313A= NCBI36
NG_008155.1:g.24200A=

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.827A= MANE Select NP_004975.2:p.Tyr276=
ENST00000455537.7:c.827A= MANE Select ENSP00000408979.2:p.Tyr276=
NM_001354705.1:c.560A= NP_001341634.1:p.Tyr187=
NM_001354705.2:c.560A= NP_001341634.1:p.Tyr187=
NM_004984.2:c.827A= NP_004975.2:p.Tyr276=
NM_004984.3:c.827A= NP_004975.2:p.Tyr276=
ENST00000286452.5:c.560A= ENSP00000286452.5:p.Tyr187=
ENST00000455537.6:c.827A= ENSP00000408979.2:p.Tyr276=
ENST00000674619.1:c.827A= ENSP00000502270.1:p.Tyr276=
ENST00000676457.1:c.722A= ENSP00000501588.1:p.Tyr241=
XR_002957324.1:n.1060A=