Canonical Allele Identifier: CA237791496

Gene: KIF5A

Linked Data

• dbSNP Id: rs548734327
• gnomAD v2: 12-57975917-C-A
• gnomAD v3: 12-57582134-C-A
• gnomAD v4: 12-57582134-C-A
• MyVariant Identifiers: chr12:g.57975917C>A (hg19) ; chr12:g.57582134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582134C>A , CM000674.2:g.57582134C>A	GRCh38
NC_000012.11:g.57975917C>A , CM000674.1:g.57975917C>A	GRCh37
NC_000012.10:g.56262184C>A	NCBI36
NG_008155.1:g.37071C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+182C>A MANE Select	ENSP00000408979.2:n.2992+182C>A
ENST00000674619.1:c.3013+182C>A	ENSP00000502270.1:n.3013+182C>A
ENST00000675697.1:c.83+182C>A
ENST00000675737.1:n.578C>A
ENST00000675882.1:n.2515+182C>A
ENST00000675929.1:n.1550+182C>A
ENST00000676055.1:c.83+182C>A
ENST00000676437.1:c.17+182C>A
ENST00000676457.1:c.2887+182C>A	ENSP00000501588.1:n.2887+182C>A
ENST00000286452.5:c.2725+182C>A	ENSP00000286452.5:n.2725+182C>A
ENST00000455537.6:c.2992+182C>A	ENSP00000408979.2:n.2992+182C>A
ENST00000552227.1:n.275+182C>A
NM_004984.2:c.2992+182C>A	NP_004975.2:n.2992+182C>A
NM_001354705.1:c.2725+182C>A	NP_001341634.1:n.2725+182C>A
NM_004984.3:c.2992+182C>A	NP_004975.2:n.2992+182C>A
XR_002957324.1:n.3225+182C>A
NM_004984.4:c.2992+182C>A MANE Select	NP_004975.2:n.2992+182C>A
NM_001354705.2:c.2725+182C>A	NP_001341634.1:n.2725+182C>A