Canonical Allele Identifier: CA385496456

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57550401G>A , CM000674.2:g.57550401G>A	GRCh38
NC_000012.11:g.57944184G>A , CM000674.1:g.57944184G>A	GRCh37
NC_000012.10:g.56230451G>A	NCBI36
NG_008155.1:g.5338G>A
NG_047120.1:g.1931C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.129+1G>A MANE Select	NP_004975.2:n.129+1G>A
ENST00000455537.7:c.129+1G>A MANE Select	ENSP00000408979.2:n.129+1G>A
NM_001354705.1:c.129+1G>A	NP_001341634.1:n.129+1G>A
NM_001354705.2:c.129+1G>A	NP_001341634.1:n.129+1G>A
NM_004984.2:c.129+1G>A	NP_004975.2:n.129+1G>A
NM_004984.3:c.129+1G>A	NP_004975.2:n.129+1G>A
ENST00000286452.5:c.129+1G>A	ENSP00000286452.5:n.129+1G>A
ENST00000455537.6:c.129+1G>A	ENSP00000408979.2:n.129+1G>A
ENST00000674619.1:c.129+1G>A	ENSP00000502270.1:n.129+1G>A
ENST00000675023.1:c.130G>A	ENSP00000502553.1:p.Val44Met
ENST00000675216.1:c.129+1G>A	ENSP00000502608.1:n.129+1G>A
ENST00000676250.1:c.-25+4089G>A	ENSP00000501749.1:n.-25+4089G>A
ENST00000676359.1:c.129+1G>A	ENSP00000502609.1:n.129+1G>A
ENST00000676457.1:c.129+1G>A	ENSP00000501588.1:n.129+1G>A
XR_002957324.1:n.362+1G>A