Canonical Allele Identifier: CA385499932

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57962774T>G (hg19) ; chr12:g.57568991T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57568991T>G , CM000674.2:g.57568991T>G	GRCh38
NC_000012.11:g.57962774T>G , CM000674.1:g.57962774T>G	GRCh37
NC_000012.10:g.56249041T>G	NCBI36
NG_008155.1:g.23928T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.743T>G MANE Select	ENSP00000408979.2:p.Val248Gly
ENST00000674619.1:c.743T>G	ENSP00000502270.1:p.Val248Gly
ENST00000676457.1:c.638T>G	ENSP00000501588.1:p.Val213Gly
ENST00000286452.5:c.476T>G	ENSP00000286452.5:p.Val159Gly
ENST00000455537.6:c.743T>G	ENSP00000408979.2:p.Val248Gly
NM_004984.2:c.743T>G	NP_004975.2:p.Val248Gly
NM_001354705.1:c.476T>G	NP_001341634.1:p.Val159Gly
NM_004984.3:c.743T>G	NP_004975.2:p.Val248Gly
XR_002957324.1:n.976T>G
NM_004984.4:c.743T>G MANE Select	NP_004975.2:p.Val248Gly
NM_001354705.2:c.476T>G	NP_001341634.1:p.Val159Gly