Canonical Allele Identifier: CA948096659

Gene: KIF5A

Linked Data

• gnomAD v3: 12-57582106-T-G
• gnomAD v4: 12-57582106-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57582106T>G , CM000674.2:g.57582106T>G	GRCh38
NC_000012.11:g.57975889T>G , CM000674.1:g.57975889T>G	GRCh37
NC_000012.10:g.56262156T>G	NCBI36
NG_008155.1:g.37043T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2992+154T>G MANE Select	ENSP00000408979.2:n.2992+154T>G
ENST00000674619.1:c.3013+154T>G	ENSP00000502270.1:n.3013+154T>G
ENST00000675697.1:c.83+154T>G
ENST00000675737.1:n.550T>G
ENST00000675882.1:n.2515+154T>G
ENST00000675929.1:n.1550+154T>G
ENST00000676055.1:c.83+154T>G
ENST00000676437.1:c.17+154T>G
ENST00000676457.1:c.2887+154T>G	ENSP00000501588.1:n.2887+154T>G
ENST00000286452.5:c.2725+154T>G	ENSP00000286452.5:n.2725+154T>G
ENST00000455537.6:c.2992+154T>G	ENSP00000408979.2:n.2992+154T>G
ENST00000552227.1:n.275+154T>G
NM_004984.2:c.2992+154T>G	NP_004975.2:n.2992+154T>G
NM_001354705.1:c.2725+154T>G	NP_001341634.1:n.2725+154T>G
NM_004984.3:c.2992+154T>G	NP_004975.2:n.2992+154T>G
XR_002957324.1:n.3225+154T>G
NM_004984.4:c.2992+154T>G MANE Select	NP_004975.2:n.2992+154T>G
NM_001354705.2:c.2725+154T>G	NP_001341634.1:n.2725+154T>G