Canonical Allele Identifier: CA2619476757

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57574951-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57574951G>T , CM000674.2:g.57574951G>T	GRCh38
NC_000012.11:g.57968734G>T , CM000674.1:g.57968734G>T	GRCh37
NC_000012.10:g.56255001G>T	NCBI36
NG_008155.1:g.29888G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.1717-133G>T MANE Select	ENSP00000408979.2:n.1717-133G>T
ENST00000674619.1:c.1717-133G>T	ENSP00000502270.1:n.1717-133G>T
ENST00000675629.1:c.46-133G>T	ENSP00000502531.1:n.46-133G>T
ENST00000675882.1:n.704-133G>T
ENST00000675929.1:n.275-133G>T
ENST00000675984.1:n.959-133G>T
ENST00000676081.1:n.863-133G>T
ENST00000676352.1:c.208-133G>T	ENSP00000501978.1:n.208-133G>T
ENST00000676457.1:c.1612-133G>T	ENSP00000501588.1:n.1612-133G>T
ENST00000286452.5:c.1450-133G>T	ENSP00000286452.5:n.1450-133G>T
ENST00000455537.6:c.1717-133G>T	ENSP00000408979.2:n.1717-133G>T
NM_004984.2:c.1717-133G>T	NP_004975.2:n.1717-133G>T
NM_001354705.1:c.1450-133G>T	NP_001341634.1:n.1450-133G>T
NM_004984.3:c.1717-133G>T	NP_004975.2:n.1717-133G>T
XR_002957324.1:n.1950-133G>T
NM_004984.4:c.1717-133G>T MANE Select	NP_004975.2:n.1717-133G>T
NM_001354705.2:c.1450-133G>T	NP_001341634.1:n.1450-133G>T