Canonical Allele Identifier: CA690307229

Gene: KIF5A

Linked Data

• dbSNP Id: rs1318501653
• gnomAD v3: 12-57574847-T-C
• gnomAD v4: 12-57574847-T-C
• MyVariant Identifiers: chr12:g.57968630T>C (hg19) ; chr12:g.57574847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57574847T>C , CM000674.2:g.57574847T>C	GRCh38
NC_000012.11:g.57968630T>C , CM000674.1:g.57968630T>C	GRCh37
NC_000012.10:g.56254897T>C	NCBI36
NG_008155.1:g.29784T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.1717-237T>C MANE Select	ENSP00000408979.2:n.1717-237T>C
ENST00000674619.1:c.1717-237T>C	ENSP00000502270.1:n.1717-237T>C
ENST00000675629.1:c.46-237T>C	ENSP00000502531.1:n.46-237T>C
ENST00000675882.1:n.704-237T>C
ENST00000675929.1:n.275-237T>C
ENST00000675984.1:n.959-237T>C
ENST00000676081.1:n.863-237T>C
ENST00000676352.1:c.208-237T>C	ENSP00000501978.1:n.208-237T>C
ENST00000676457.1:c.1612-237T>C	ENSP00000501588.1:n.1612-237T>C
ENST00000286452.5:c.1450-237T>C	ENSP00000286452.5:n.1450-237T>C
ENST00000455537.6:c.1717-237T>C	ENSP00000408979.2:n.1717-237T>C
NM_004984.2:c.1717-237T>C	NP_004975.2:n.1717-237T>C
NM_001354705.1:c.1450-237T>C	NP_001341634.1:n.1450-237T>C
NM_004984.3:c.1717-237T>C	NP_004975.2:n.1717-237T>C
XR_002957324.1:n.1950-237T>C
NM_004984.4:c.1717-237T>C MANE Select	NP_004975.2:n.1717-237T>C
NM_001354705.2:c.1450-237T>C	NP_001341634.1:n.1450-237T>C