Canonical Allele Identifier: CA6652519

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57563461G>A , CM000674.2:g.57563461G>A	GRCh38
NC_000012.11:g.57957244G>A , CM000674.1:g.57957244G>A	GRCh37
NC_000012.10:g.56243511G>A	NCBI36
NG_008155.1:g.18398G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.152G>A MANE Select	NP_004975.2:p.Arg51His
ENST00000455537.7:c.152G>A MANE Select	ENSP00000408979.2:p.Arg51His
NM_001354705.1:c.130-999G>A	NP_001341634.1:n.130-999G>A
NM_001354705.2:c.130-999G>A	NP_001341634.1:n.130-999G>A
NM_004984.2:c.152G>A	NP_004975.2:p.Arg51His
NM_004984.3:c.152G>A	NP_004975.2:p.Arg51His
ENST00000286452.5:c.130-999G>A	ENSP00000286452.5:n.130-999G>A
ENST00000455537.6:c.152G>A	ENSP00000408979.2:p.Arg51His
ENST00000674619.1:c.152G>A	ENSP00000502270.1:p.Arg51His
ENST00000675023.1:c.*135G>A	ENSP00000502553.1:n.*135G>A
ENST00000675216.1:c.*3G>A	ENSP00000502608.1:n.*3G>A
ENST00000676250.1:c.-24-647G>A	ENSP00000501749.1:n.-24-647G>A
ENST00000676359.1:c.130-647G>A	ENSP00000502609.1:n.130-647G>A
ENST00000676457.1:c.152G>A	ENSP00000501588.1:p.Arg51His
XR_002957324.1:n.385G>A