Canonical Allele Identifier: CA385516667

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975696G>C (hg19) ; chr12:g.57581913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581913G>C , CM000674.2:g.57581913G>C	GRCh38
NC_000012.11:g.57975696G>C , CM000674.1:g.57975696G>C	GRCh37
NC_000012.10:g.56261963G>C	NCBI36
NG_008155.1:g.36850G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2953G>C MANE Select	ENSP00000408979.2:p.Gly985Arg
ENST00000674619.1:c.2974G>C	ENSP00000502270.1:p.Gly992Arg
ENST00000675697.1:c.44G>C
ENST00000675737.1:n.357G>C
ENST00000675882.1:n.2476G>C
ENST00000675929.1:n.1511G>C
ENST00000676055.1:c.44G>C
ENST00000676457.1:c.2848G>C	ENSP00000501588.1:p.Gly950Arg
ENST00000286452.5:c.2686G>C	ENSP00000286452.5:p.Gly896Arg
ENST00000455537.6:c.2953G>C	ENSP00000408979.2:p.Gly985Arg
ENST00000552227.1:n.236G>C
NM_004984.2:c.2953G>C	NP_004975.2:p.Gly985Arg
NM_001354705.1:c.2686G>C	NP_001341634.1:p.Gly896Arg
NM_004984.3:c.2953G>C	NP_004975.2:p.Gly985Arg
XR_002957324.1:n.3186G>C
NM_004984.4:c.2953G>C MANE Select	NP_004975.2:p.Gly985Arg
NM_001354705.2:c.2686G>C	NP_001341634.1:p.Gly896Arg