Canonical Allele Identifier: CA385499605

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57567617-A-T
• MyVariant Identifiers: chr12:g.57961400A>T (hg19) ; chr12:g.57567617A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57567617A>T , CM000674.2:g.57567617A>T	GRCh38
NC_000012.11:g.57961400A>T , CM000674.1:g.57961400A>T	GRCh37
NC_000012.10:g.56247667A>T	NCBI36
NG_008155.1:g.22554A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.713A>T MANE Select	ENSP00000408979.2:p.Lys238Met
ENST00000674619.1:c.713A>T	ENSP00000502270.1:p.Lys238Met
ENST00000676457.1:c.608A>T	ENSP00000501588.1:p.Lys203Met
ENST00000286452.5:c.446A>T	ENSP00000286452.5:p.Lys149Met
ENST00000455537.6:c.713A>T	ENSP00000408979.2:p.Lys238Met
NM_004984.2:c.713A>T	NP_004975.2:p.Lys238Met
NM_001354705.1:c.446A>T	NP_001341634.1:p.Lys149Met
NM_004984.3:c.713A>T	NP_004975.2:p.Lys238Met
XR_002957324.1:n.946A>T
NM_004984.4:c.713A>T MANE Select	NP_004975.2:p.Lys238Met
NM_001354705.2:c.446A>T	NP_001341634.1:p.Lys149Met