Canonical Allele Identifier: CA605705702

Gene: KIF5A

Linked Data

• dbSNP Id: rs1276440519
• gnomAD v2: 12-57962928-C-T
• gnomAD v3: 12-57569145-C-T
• gnomAD v4: 12-57569145-C-T
• MyVariant Identifiers: chr12:g.57962928C>T (hg19) ; chr12:g.57569145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569145C>T , CM000674.2:g.57569145C>T	GRCh38
NC_000012.11:g.57962928C>T , CM000674.1:g.57962928C>T	GRCh37
NC_000012.10:g.56249195C>T	NCBI36
NG_008155.1:g.24082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.819+78C>T MANE Select	ENSP00000408979.2:n.819+78C>T
ENST00000674619.1:c.819+78C>T	ENSP00000502270.1:n.819+78C>T
ENST00000676457.1:c.714+78C>T	ENSP00000501588.1:n.714+78C>T
ENST00000286452.5:c.552+78C>T	ENSP00000286452.5:n.552+78C>T
ENST00000455537.6:c.819+78C>T	ENSP00000408979.2:n.819+78C>T
NM_004984.2:c.819+78C>T	NP_004975.2:n.819+78C>T
NM_001354705.1:c.552+78C>T	NP_001341634.1:n.552+78C>T
NM_004984.3:c.819+78C>T	NP_004975.2:n.819+78C>T
XR_002957324.1:n.1052+78C>T
NM_004984.4:c.819+78C>T MANE Select	NP_004975.2:n.819+78C>T
NM_001354705.2:c.552+78C>T	NP_001341634.1:n.552+78C>T