Canonical Allele Identifier: CA237783144

Gene: KIF5A

Linked Data

• dbSNP Id: rs964845492
• gnomAD v4: 12-57569084-T-C
• MyVariant Identifiers: chr12:g.57962867T>C (hg19) ; chr12:g.57569084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569084T>C , CM000674.2:g.57569084T>C	GRCh38
NC_000012.11:g.57962867T>C , CM000674.1:g.57962867T>C	GRCh37
NC_000012.10:g.56249134T>C	NCBI36
NG_008155.1:g.24021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.819+17T>C MANE Select	ENSP00000408979.2:n.819+17T>C
ENST00000674619.1:c.819+17T>C	ENSP00000502270.1:n.819+17T>C
ENST00000676457.1:c.714+17T>C	ENSP00000501588.1:n.714+17T>C
ENST00000286452.5:c.552+17T>C	ENSP00000286452.5:n.552+17T>C
ENST00000455537.6:c.819+17T>C	ENSP00000408979.2:n.819+17T>C
NM_004984.2:c.819+17T>C	NP_004975.2:n.819+17T>C
NM_001354705.1:c.552+17T>C	NP_001341634.1:n.552+17T>C
NM_004984.3:c.819+17T>C	NP_004975.2:n.819+17T>C
XR_002957324.1:n.1052+17T>C
NM_004984.4:c.819+17T>C MANE Select	NP_004975.2:n.819+17T>C
NM_001354705.2:c.552+17T>C	NP_001341634.1:n.552+17T>C