Canonical Allele Identifier: CA605313061

Gene: KIF5A

Linked Data

• dbSNP Id: rs1347369930
• gnomAD v2: 12-57968691-G-A
• gnomAD v3: 12-57574908-G-A
• gnomAD v4: 12-57574908-G-A
• MyVariant Identifiers: chr12:g.57968691G>A (hg19) ; chr12:g.57574908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57574908G>A , CM000674.2:g.57574908G>A	GRCh38
NC_000012.11:g.57968691G>A , CM000674.1:g.57968691G>A	GRCh37
NC_000012.10:g.56254958G>A	NCBI36
NG_008155.1:g.29845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.1717-176G>A MANE Select	ENSP00000408979.2:n.1717-176G>A
ENST00000674619.1:c.1717-176G>A	ENSP00000502270.1:n.1717-176G>A
ENST00000675629.1:c.46-176G>A	ENSP00000502531.1:n.46-176G>A
ENST00000675882.1:n.704-176G>A
ENST00000675929.1:n.275-176G>A
ENST00000675984.1:n.959-176G>A
ENST00000676081.1:n.863-176G>A
ENST00000676352.1:c.208-176G>A	ENSP00000501978.1:n.208-176G>A
ENST00000676457.1:c.1612-176G>A	ENSP00000501588.1:n.1612-176G>A
ENST00000286452.5:c.1450-176G>A	ENSP00000286452.5:n.1450-176G>A
ENST00000455537.6:c.1717-176G>A	ENSP00000408979.2:n.1717-176G>A
NM_004984.2:c.1717-176G>A	NP_004975.2:n.1717-176G>A
NM_001354705.1:c.1450-176G>A	NP_001341634.1:n.1450-176G>A
NM_004984.3:c.1717-176G>A	NP_004975.2:n.1717-176G>A
XR_002957324.1:n.1950-176G>A
NM_004984.4:c.1717-176G>A MANE Select	NP_004975.2:n.1717-176G>A
NM_001354705.2:c.1450-176G>A	NP_001341634.1:n.1450-176G>A