Canonical Allele Identifier: CA6653132
Community Standard Title: NM_004984.4(KIF5A):c.2466G>C (p.Gly822=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57578270G>C , CM000674.2:g.57578270G>C GRCh38
NC_000012.11:g.57972053G>C , CM000674.1:g.57972053G>C GRCh37
NC_000012.10:g.56258320G>C NCBI36
NG_008155.1:g.33207G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.2466G>C MANE Select NP_004975.2:p.Gly822=
ENST00000455537.7:c.2466G>C MANE Select ENSP00000408979.2:p.Gly822=
NM_001354705.1:c.2199G>C NP_001341634.1:p.Gly733=
NM_001354705.2:c.2199G>C NP_001341634.1:p.Gly733=
NM_004984.2:c.2466G>C NP_004975.2:p.Gly822=
NM_004984.3:c.2466G>C NP_004975.2:p.Gly822=
ENST00000286452.5:c.2199G>C ENSP00000286452.5:p.Gly733=
ENST00000455537.6:c.2466G>C ENSP00000408979.2:p.Gly822=
ENST00000674619.1:c.2466G>C ENSP00000502270.1:p.Gly822=
ENST00000674776.1:c.33G>C ENSP00000502434.1:p.Gly11=
ENST00000675397.1:n.236G>C
ENST00000675882.1:n.1688G>C
ENST00000675907.1:c.33G>C ENSP00000502360.1:p.Gly11=
ENST00000675929.1:n.1024G>C
ENST00000675984.1:n.2771G>C
ENST00000676081.1:n.2111G>C
ENST00000676457.1:c.2361G>C ENSP00000501588.1:p.Gly787=
XR_002957324.1:n.2699G>C