Canonical Allele Identifier: CA385516590

Gene: KIF5A

Linked Data

• gnomAD v4: 12-57581892-A-G
• MyVariant Identifiers: chr12:g.57975675A>G (hg19) ; chr12:g.57581892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581892A>G , CM000674.2:g.57581892A>G	GRCh38
NC_000012.11:g.57975675A>G , CM000674.1:g.57975675A>G	GRCh37
NC_000012.10:g.56261942A>G	NCBI36
NG_008155.1:g.36829A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2932A>G MANE Select	ENSP00000408979.2:p.Ser978Gly
ENST00000674619.1:c.2953A>G	ENSP00000502270.1:p.Ser985Gly
ENST00000675697.1:c.23A>G
ENST00000675737.1:n.336A>G
ENST00000675882.1:n.2455A>G
ENST00000675929.1:n.1490A>G
ENST00000676055.1:c.23A>G
ENST00000676457.1:c.2827A>G	ENSP00000501588.1:p.Ser943Gly
ENST00000286452.5:c.2665A>G	ENSP00000286452.5:p.Ser889Gly
ENST00000455537.6:c.2932A>G	ENSP00000408979.2:p.Ser978Gly
ENST00000552227.1:n.215A>G
NM_004984.2:c.2932A>G	NP_004975.2:p.Ser978Gly
NM_001354705.1:c.2665A>G	NP_001341634.1:p.Ser889Gly
NM_004984.3:c.2932A>G	NP_004975.2:p.Ser978Gly
XR_002957324.1:n.3165A>G
NM_004984.4:c.2932A>G MANE Select	NP_004975.2:p.Ser978Gly
NM_001354705.2:c.2665A>G	NP_001341634.1:p.Ser889Gly