Canonical Allele Identifier: CA6652692

Gene: KIF5A

Linked Data

• dbSNP Id: rs777213429
• ExAC: 12:57963000 T / C
• gnomAD v2: 12-57963000-T-C
• gnomAD v3: 12-57569217-T-C
• gnomAD v4: 12-57569217-T-C
• MyVariant Identifiers: chr12:g.57963000T>C (hg19) ; chr12:g.57569217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569217T>C , CM000674.2:g.57569217T>C	GRCh38
NC_000012.11:g.57963000T>C , CM000674.1:g.57963000T>C	GRCh37
NC_000012.10:g.56249267T>C	NCBI36
NG_008155.1:g.24154T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.820-39T>C MANE Select	ENSP00000408979.2:n.820-39T>C
ENST00000674619.1:c.820-39T>C	ENSP00000502270.1:n.820-39T>C
ENST00000676457.1:c.715-39T>C	ENSP00000501588.1:n.715-39T>C
ENST00000286452.5:c.553-39T>C	ENSP00000286452.5:n.553-39T>C
ENST00000455537.6:c.820-39T>C	ENSP00000408979.2:n.820-39T>C
NM_004984.2:c.820-39T>C	NP_004975.2:n.820-39T>C
NM_001354705.1:c.553-39T>C	NP_001341634.1:n.553-39T>C
NM_004984.3:c.820-39T>C	NP_004975.2:n.820-39T>C
XR_002957324.1:n.1053-39T>C
NM_004984.4:c.820-39T>C MANE Select	NP_004975.2:n.820-39T>C
NM_001354705.2:c.553-39T>C	NP_001341634.1:n.553-39T>C