Canonical Allele Identifier: CA385499948

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57962779G>T (hg19) ; chr12:g.57568996G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568996G>T , CM000674.2:g.57568996G>T	GRCh38
NC_000012.11:g.57962779G>T , CM000674.1:g.57962779G>T	GRCh37
NC_000012.10:g.56249046G>T	NCBI36
NG_008155.1:g.23933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.748G>T MANE Select	ENSP00000408979.2:p.Asp250Tyr
ENST00000674619.1:c.748G>T	ENSP00000502270.1:p.Asp250Tyr
ENST00000676457.1:c.643G>T	ENSP00000501588.1:p.Asp215Tyr
ENST00000286452.5:c.481G>T	ENSP00000286452.5:p.Asp161Tyr
ENST00000455537.6:c.748G>T	ENSP00000408979.2:p.Asp250Tyr
NM_004984.2:c.748G>T	NP_004975.2:p.Asp250Tyr
NM_001354705.1:c.481G>T	NP_001341634.1:p.Asp161Tyr
NM_004984.3:c.748G>T	NP_004975.2:p.Asp250Tyr
XR_002957324.1:n.981G>T
NM_004984.4:c.748G>T MANE Select	NP_004975.2:p.Asp250Tyr
NM_001354705.2:c.481G>T	NP_001341634.1:p.Asp161Tyr