Canonical Allele Identifier: CA385496283

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57564975T>C , CM000674.2:g.57564975T>C	GRCh38
NC_000012.11:g.57958758T>C , CM000674.1:g.57958758T>C	GRCh37
NC_000012.10:g.56245025T>C	NCBI36
NG_008155.1:g.19912T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.501+2T>C MANE Select	NP_004975.2:n.501+2T>C
ENST00000455537.7:c.501+2T>C MANE Select	ENSP00000408979.2:n.501+2T>C
NM_001354705.1:c.234+2T>C	NP_001341634.1:n.234+2T>C
NM_001354705.2:c.234+2T>C	NP_001341634.1:n.234+2T>C
NM_004984.2:c.501+2T>C	NP_004975.2:n.501+2T>C
NM_004984.3:c.501+2T>C	NP_004975.2:n.501+2T>C
ENST00000286452.5:c.234+2T>C	ENSP00000286452.5:n.234+2T>C
ENST00000455537.6:c.501+2T>C	ENSP00000408979.2:n.501+2T>C
ENST00000674619.1:c.501+2T>C	ENSP00000502270.1:n.501+2T>C
ENST00000676457.1:c.396+2T>C	ENSP00000501588.1:n.396+2T>C
XR_002957324.1:n.734+2T>C