Canonical Allele Identifier: CA2619471586

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57568949-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568949T>C , CM000674.2:g.57568949T>C	GRCh38
NC_000012.11:g.57962732T>C , CM000674.1:g.57962732T>C	GRCh37
NC_000012.10:g.56248999T>C	NCBI36
NG_008155.1:g.23886T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.715-14T>C MANE Select	ENSP00000408979.2:n.715-14T>C
ENST00000674619.1:c.715-14T>C	ENSP00000502270.1:n.715-14T>C
ENST00000676457.1:c.610-14T>C	ENSP00000501588.1:n.610-14T>C
ENST00000286452.5:c.448-14T>C	ENSP00000286452.5:n.448-14T>C
ENST00000455537.6:c.715-14T>C	ENSP00000408979.2:n.715-14T>C
NM_004984.2:c.715-14T>C	NP_004975.2:n.715-14T>C
NM_001354705.1:c.448-14T>C	NP_001341634.1:n.448-14T>C
NM_004984.3:c.715-14T>C	NP_004975.2:n.715-14T>C
XR_002957324.1:n.948-14T>C
NM_004984.4:c.715-14T>C MANE Select	NP_004975.2:n.715-14T>C
NM_001354705.2:c.448-14T>C	NP_001341634.1:n.448-14T>C