Canonical Allele Identifier: CA6652700

Gene: KIF5A

Linked Data

• dbSNP Id: rs185306438
• ExAC: 12:57963030 C / T
• gnomAD v2: 12-57963030-C-T
• gnomAD v4: 12-57569247-C-T
• MyVariant Identifiers: chr12:g.57963030C>T (hg19) ; chr12:g.57569247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569247C>T , CM000674.2:g.57569247C>T	GRCh38
NC_000012.11:g.57963030C>T , CM000674.1:g.57963030C>T	GRCh37
NC_000012.10:g.56249297C>T	NCBI36
NG_008155.1:g.24184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.820-9C>T MANE Select	ENSP00000408979.2:n.820-9C>T
ENST00000674619.1:c.820-9C>T	ENSP00000502270.1:n.820-9C>T
ENST00000676457.1:c.715-9C>T	ENSP00000501588.1:n.715-9C>T
ENST00000286452.5:c.553-9C>T	ENSP00000286452.5:n.553-9C>T
ENST00000455537.6:c.820-9C>T	ENSP00000408979.2:n.820-9C>T
NM_004984.2:c.820-9C>T	NP_004975.2:n.820-9C>T
NM_001354705.1:c.553-9C>T	NP_001341634.1:n.553-9C>T
NM_004984.3:c.820-9C>T	NP_004975.2:n.820-9C>T
XR_002957324.1:n.1053-9C>T
NM_004984.4:c.820-9C>T MANE Select	NP_004975.2:n.820-9C>T
NM_001354705.2:c.553-9C>T	NP_001341634.1:n.553-9C>T