Canonical Allele Identifier: CA385517000
Community Standard Title: NM_004984.4(KIF5A):c.3005A>G (p.Asp1002Gly)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57582614A>G , CM000674.2:g.57582614A>G GRCh38
NC_000012.11:g.57976397A>G , CM000674.1:g.57976397A>G GRCh37
NC_000012.10:g.56262664A>G NCBI36
NG_008155.1:g.37551A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.3005A>G MANE Select NP_004975.2:p.Asp1002Gly
ENST00000455537.7:c.3005A>G MANE Select ENSP00000408979.2:p.Asp1002Gly
NM_001354705.1:c.2738A>G NP_001341634.1:p.Asp913Gly
NM_001354705.2:c.2738A>G NP_001341634.1:p.Asp913Gly
NM_004984.2:c.3005A>G NP_004975.2:p.Asp1002Gly
NM_004984.3:c.3005A>G NP_004975.2:p.Asp1002Gly
ENST00000286452.5:c.2738A>G ENSP00000286452.5:p.Asp913Gly
ENST00000455537.6:c.3005A>G ENSP00000408979.2:p.Asp1002Gly
ENST00000552227.1:n.288A>G
ENST00000674619.1:c.3026A>G ENSP00000502270.1:p.Asp1009Gly
ENST00000675201.1:n.13A>G
ENST00000675697.1:c.84-487A>G
ENST00000675737.1:n.1058A>G
ENST00000675866.1:c.13A>G
ENST00000675882.1:n.2528A>G
ENST00000675929.1:n.1563A>G
ENST00000676055.1:c.84A>G
ENST00000676265.1:n.13A>G
ENST00000676437.1:c.30A>G
ENST00000676457.1:c.2900A>G ENSP00000501588.1:p.Asp967Gly
XR_002957324.1:n.3238A>G