Canonical Allele Identifier: CA385516670

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975697G>C (hg19) ; chr12:g.57581914G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581914G>C , CM000674.2:g.57581914G>C	GRCh38
NC_000012.11:g.57975697G>C , CM000674.1:g.57975697G>C	GRCh37
NC_000012.10:g.56261964G>C	NCBI36
NG_008155.1:g.36851G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2954G>C MANE Select	ENSP00000408979.2:p.Gly985Ala
ENST00000674619.1:c.2975G>C	ENSP00000502270.1:p.Gly992Ala
ENST00000675697.1:c.45G>C
ENST00000675737.1:n.358G>C
ENST00000675882.1:n.2477G>C
ENST00000675929.1:n.1512G>C
ENST00000676055.1:c.45G>C
ENST00000676457.1:c.2849G>C	ENSP00000501588.1:p.Gly950Ala
ENST00000286452.5:c.2687G>C	ENSP00000286452.5:p.Gly896Ala
ENST00000455537.6:c.2954G>C	ENSP00000408979.2:p.Gly985Ala
ENST00000552227.1:n.237G>C
NM_004984.2:c.2954G>C	NP_004975.2:p.Gly985Ala
NM_001354705.1:c.2687G>C	NP_001341634.1:p.Gly896Ala
NM_004984.3:c.2954G>C	NP_004975.2:p.Gly985Ala
XR_002957324.1:n.3187G>C
NM_004984.4:c.2954G>C MANE Select	NP_004975.2:p.Gly985Ala
NM_001354705.2:c.2687G>C	NP_001341634.1:p.Gly896Ala