Canonical Allele Identifier: CA948096680

Gene: KIF5A

Linked Data

• dbSNP Id: rs1882624811
• gnomAD v3: 12-57582121-G-A
• gnomAD v4: 12-57582121-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582121G>A , CM000674.2:g.57582121G>A	GRCh38
NC_000012.11:g.57975904G>A , CM000674.1:g.57975904G>A	GRCh37
NC_000012.10:g.56262171G>A	NCBI36
NG_008155.1:g.37058G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+169G>A MANE Select	ENSP00000408979.2:n.2992+169G>A
ENST00000674619.1:c.3013+169G>A	ENSP00000502270.1:n.3013+169G>A
ENST00000675697.1:c.83+169G>A
ENST00000675737.1:n.565G>A
ENST00000675882.1:n.2515+169G>A
ENST00000675929.1:n.1550+169G>A
ENST00000676055.1:c.83+169G>A
ENST00000676437.1:c.17+169G>A
ENST00000676457.1:c.2887+169G>A	ENSP00000501588.1:n.2887+169G>A
ENST00000286452.5:c.2725+169G>A	ENSP00000286452.5:n.2725+169G>A
ENST00000455537.6:c.2992+169G>A	ENSP00000408979.2:n.2992+169G>A
ENST00000552227.1:n.275+169G>A
NM_004984.2:c.2992+169G>A	NP_004975.2:n.2992+169G>A
NM_001354705.1:c.2725+169G>A	NP_001341634.1:n.2725+169G>A
NM_004984.3:c.2992+169G>A	NP_004975.2:n.2992+169G>A
XR_002957324.1:n.3225+169G>A
NM_004984.4:c.2992+169G>A MANE Select	NP_004975.2:n.2992+169G>A
NM_001354705.2:c.2725+169G>A	NP_001341634.1:n.2725+169G>A