Canonical Allele Identifier: CA385516752

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975716G>C (hg19) ; chr12:g.57581933G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581933G>C , CM000674.2:g.57581933G>C	GRCh38
NC_000012.11:g.57975716G>C , CM000674.1:g.57975716G>C	GRCh37
NC_000012.10:g.56261983G>C	NCBI36
NG_008155.1:g.36870G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2973G>C MANE Select	ENSP00000408979.2:p.Gln991His
ENST00000674619.1:c.2994G>C	ENSP00000502270.1:p.Gln998His
ENST00000675697.1:c.64G>C
ENST00000675737.1:n.377G>C
ENST00000675882.1:n.2496G>C
ENST00000675929.1:n.1531G>C
ENST00000676055.1:c.64G>C
ENST00000676457.1:c.2868G>C	ENSP00000501588.1:p.Gln956His
ENST00000286452.5:c.2706G>C	ENSP00000286452.5:p.Gln902His
ENST00000455537.6:c.2973G>C	ENSP00000408979.2:p.Gln991His
ENST00000552227.1:n.256G>C
NM_004984.2:c.2973G>C	NP_004975.2:p.Gln991His
NM_001354705.1:c.2706G>C	NP_001341634.1:p.Gln902His
NM_004984.3:c.2973G>C	NP_004975.2:p.Gln991His
XR_002957324.1:n.3206G>C
NM_004984.4:c.2973G>C MANE Select	NP_004975.2:p.Gln991His
NM_001354705.2:c.2706G>C	NP_001341634.1:p.Gln902His