Canonical Allele Identifier: CA385516653

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975691C>A (hg19) ; chr12:g.57581908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581908C>A , CM000674.2:g.57581908C>A	GRCh38
NC_000012.11:g.57975691C>A , CM000674.1:g.57975691C>A	GRCh37
NC_000012.10:g.56261958C>A	NCBI36
NG_008155.1:g.36845C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2948C>A MANE Select	ENSP00000408979.2:p.Ser983Tyr
ENST00000674619.1:c.2969C>A	ENSP00000502270.1:p.Ser990Tyr
ENST00000675697.1:c.39C>A
ENST00000675737.1:n.352C>A
ENST00000675882.1:n.2471C>A
ENST00000675929.1:n.1506C>A
ENST00000676055.1:c.39C>A
ENST00000676457.1:c.2843C>A	ENSP00000501588.1:p.Ser948Tyr
ENST00000286452.5:c.2681C>A	ENSP00000286452.5:p.Ser894Tyr
ENST00000455537.6:c.2948C>A	ENSP00000408979.2:p.Ser983Tyr
ENST00000552227.1:n.231C>A
NM_004984.2:c.2948C>A	NP_004975.2:p.Ser983Tyr
NM_001354705.1:c.2681C>A	NP_001341634.1:p.Ser894Tyr
NM_004984.3:c.2948C>A	NP_004975.2:p.Ser983Tyr
XR_002957324.1:n.3181C>A
NM_004984.4:c.2948C>A MANE Select	NP_004975.2:p.Ser983Tyr
NM_001354705.2:c.2681C>A	NP_001341634.1:p.Ser894Tyr