Canonical Allele Identifier: CA385499563

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57961393A>C (hg19) ; chr12:g.57567610A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567610A>C , CM000674.2:g.57567610A>C	GRCh38
NC_000012.11:g.57961393A>C , CM000674.1:g.57961393A>C	GRCh37
NC_000012.10:g.56247660A>C	NCBI36
NG_008155.1:g.22547A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.706A>C MANE Select	ENSP00000408979.2:p.Ser236Arg
ENST00000674619.1:c.706A>C	ENSP00000502270.1:p.Ser236Arg
ENST00000676457.1:c.601A>C	ENSP00000501588.1:p.Ser201Arg
ENST00000286452.5:c.439A>C	ENSP00000286452.5:p.Ser147Arg
ENST00000455537.6:c.706A>C	ENSP00000408979.2:p.Ser236Arg
NM_004984.2:c.706A>C	NP_004975.2:p.Ser236Arg
NM_001354705.1:c.439A>C	NP_001341634.1:p.Ser147Arg
NM_004984.3:c.706A>C	NP_004975.2:p.Ser236Arg
XR_002957324.1:n.939A>C
NM_004984.4:c.706A>C MANE Select	NP_004975.2:p.Ser236Arg
NM_001354705.2:c.439A>C	NP_001341634.1:p.Ser147Arg