Canonical Allele Identifier: CA385516712

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975708T>C (hg19) ; chr12:g.57581925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581925T>C , CM000674.2:g.57581925T>C	GRCh38
NC_000012.11:g.57975708T>C , CM000674.1:g.57975708T>C	GRCh37
NC_000012.10:g.56261975T>C	NCBI36
NG_008155.1:g.36862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2965T>C MANE Select	ENSP00000408979.2:p.Ser989Pro
ENST00000674619.1:c.2986T>C	ENSP00000502270.1:p.Ser996Pro
ENST00000675697.1:c.56T>C
ENST00000675737.1:n.369T>C
ENST00000675882.1:n.2488T>C
ENST00000675929.1:n.1523T>C
ENST00000676055.1:c.56T>C
ENST00000676457.1:c.2860T>C	ENSP00000501588.1:p.Ser954Pro
ENST00000286452.5:c.2698T>C	ENSP00000286452.5:p.Ser900Pro
ENST00000455537.6:c.2965T>C	ENSP00000408979.2:p.Ser989Pro
ENST00000552227.1:n.248T>C
NM_004984.2:c.2965T>C	NP_004975.2:p.Ser989Pro
NM_001354705.1:c.2698T>C	NP_001341634.1:p.Ser900Pro
NM_004984.3:c.2965T>C	NP_004975.2:p.Ser989Pro
XR_002957324.1:n.3198T>C
NM_004984.4:c.2965T>C MANE Select	NP_004975.2:p.Ser989Pro
NM_001354705.2:c.2698T>C	NP_001341634.1:p.Ser900Pro