Canonical Allele Identifier: CA690307261

Gene: KIF5A

Linked Data

• dbSNP Id: rs11172254
• gnomAD v3: 12-57574955-G-T
• gnomAD v4: 12-57574955-G-T
• MyVariant Identifiers: chr12:g.57968738G>T (hg19) ; chr12:g.57574955G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57574955G>T , CM000674.2:g.57574955G>T	GRCh38
NC_000012.11:g.57968738G>T , CM000674.1:g.57968738G>T	GRCh37
NC_000012.10:g.56255005G>T	NCBI36
NG_008155.1:g.29892G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.1717-129G>T MANE Select	ENSP00000408979.2:n.1717-129G>T
ENST00000674619.1:c.1717-129G>T	ENSP00000502270.1:n.1717-129G>T
ENST00000675629.1:c.46-129G>T	ENSP00000502531.1:n.46-129G>T
ENST00000675882.1:n.704-129G>T
ENST00000675929.1:n.275-129G>T
ENST00000675984.1:n.959-129G>T
ENST00000676081.1:n.863-129G>T
ENST00000676352.1:c.208-129G>T	ENSP00000501978.1:n.208-129G>T
ENST00000676457.1:c.1612-129G>T	ENSP00000501588.1:n.1612-129G>T
ENST00000286452.5:c.1450-129G>T	ENSP00000286452.5:n.1450-129G>T
ENST00000455537.6:c.1717-129G>T	ENSP00000408979.2:n.1717-129G>T
NM_004984.2:c.1717-129G>T	NP_004975.2:n.1717-129G>T
NM_001354705.1:c.1450-129G>T	NP_001341634.1:n.1450-129G>T
NM_004984.3:c.1717-129G>T	NP_004975.2:n.1717-129G>T
XR_002957324.1:n.1950-129G>T
NM_004984.4:c.1717-129G>T MANE Select	NP_004975.2:n.1717-129G>T
NM_001354705.2:c.1450-129G>T	NP_001341634.1:n.1450-129G>T