Canonical Allele Identifier: CA385499945

Gene: KIF5A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.748G>C MANE Select	ENSP00000408979.2:p.Asp250His
ENST00000674619.1:c.748G>C	ENSP00000502270.1:p.Asp250His
ENST00000676457.1:c.643G>C	ENSP00000501588.1:p.Asp215His
ENST00000286452.5:c.481G>C	ENSP00000286452.5:p.Asp161His
ENST00000455537.6:c.748G>C	ENSP00000408979.2:p.Asp250His
NM_004984.2:c.748G>C	NP_004975.2:p.Asp250His
NM_001354705.1:c.481G>C	NP_001341634.1:p.Asp161His
NM_004984.3:c.748G>C	NP_004975.2:p.Asp250His
XR_002957324.1:n.981G>C
NM_004984.4:c.748G>C MANE Select	NP_004975.2:p.Asp250His
NM_001354705.2:c.481G>C	NP_001341634.1:p.Asp161His