Canonical Allele Identifier: CA690311585

Gene: KIF5A

Linked Data

• dbSNP Id: rs1191981109
• gnomAD v3: 12-57581752-C-T
• gnomAD v4: 12-57581752-C-T
• MyVariant Identifiers: chr12:g.57975535C>T (hg19) ; chr12:g.57581752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581752C>T , CM000674.2:g.57581752C>T	GRCh38
NC_000012.11:g.57975535C>T , CM000674.1:g.57975535C>T	GRCh37
NC_000012.10:g.56261802C>T	NCBI36
NG_008155.1:g.36689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2910-118C>T MANE Select	ENSP00000408979.2:n.2910-118C>T
ENST00000674619.1:c.2931-118C>T	ENSP00000502270.1:n.2931-118C>T
ENST00000675737.1:n.314-118C>T
ENST00000675882.1:n.2315C>T
ENST00000675929.1:n.1468-118C>T
ENST00000676457.1:c.2805-118C>T	ENSP00000501588.1:n.2805-118C>T
ENST00000286452.5:c.2643-118C>T	ENSP00000286452.5:n.2643-118C>T
ENST00000455537.6:c.2910-118C>T	ENSP00000408979.2:n.2910-118C>T
ENST00000552227.1:n.75C>T
NM_004984.2:c.2910-118C>T	NP_004975.2:n.2910-118C>T
NM_001354705.1:c.2643-118C>T	NP_001341634.1:n.2643-118C>T
NM_004984.3:c.2910-118C>T	NP_004975.2:n.2910-118C>T
XR_002957324.1:n.3143-118C>T
NM_004984.4:c.2910-118C>T MANE Select	NP_004975.2:n.2910-118C>T
NM_001354705.2:c.2643-118C>T	NP_001341634.1:n.2643-118C>T