Canonical Allele Identifier: CA385499911

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57962771C>A (hg19) ; chr12:g.57568988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568988C>A , CM000674.2:g.57568988C>A	GRCh38
NC_000012.11:g.57962771C>A , CM000674.1:g.57962771C>A	GRCh37
NC_000012.10:g.56249038C>A	NCBI36
NG_008155.1:g.23925C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.740C>A MANE Select	ENSP00000408979.2:p.Ala247Asp
ENST00000674619.1:c.740C>A	ENSP00000502270.1:p.Ala247Asp
ENST00000676457.1:c.635C>A	ENSP00000501588.1:p.Ala212Asp
ENST00000286452.5:c.473C>A	ENSP00000286452.5:p.Ala158Asp
ENST00000455537.6:c.740C>A	ENSP00000408979.2:p.Ala247Asp
NM_004984.2:c.740C>A	NP_004975.2:p.Ala247Asp
NM_001354705.1:c.473C>A	NP_001341634.1:p.Ala158Asp
NM_004984.3:c.740C>A	NP_004975.2:p.Ala247Asp
XR_002957324.1:n.973C>A
NM_004984.4:c.740C>A MANE Select	NP_004975.2:p.Ala247Asp
NM_001354705.2:c.473C>A	NP_001341634.1:p.Ala158Asp