Canonical Allele Identifier: CA385516719

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975709C>T (hg19) ; chr12:g.57581926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581926C>T , CM000674.2:g.57581926C>T	GRCh38
NC_000012.11:g.57975709C>T , CM000674.1:g.57975709C>T	GRCh37
NC_000012.10:g.56261976C>T	NCBI36
NG_008155.1:g.36863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2966C>T MANE Select	ENSP00000408979.2:p.Ser989Phe
ENST00000674619.1:c.2987C>T	ENSP00000502270.1:p.Ser996Phe
ENST00000675697.1:c.57C>T
ENST00000675737.1:n.370C>T
ENST00000675882.1:n.2489C>T
ENST00000675929.1:n.1524C>T
ENST00000676055.1:c.57C>T
ENST00000676457.1:c.2861C>T	ENSP00000501588.1:p.Ser954Phe
ENST00000286452.5:c.2699C>T	ENSP00000286452.5:p.Ser900Phe
ENST00000455537.6:c.2966C>T	ENSP00000408979.2:p.Ser989Phe
ENST00000552227.1:n.249C>T
NM_004984.2:c.2966C>T	NP_004975.2:p.Ser989Phe
NM_001354705.1:c.2699C>T	NP_001341634.1:p.Ser900Phe
NM_004984.3:c.2966C>T	NP_004975.2:p.Ser989Phe
XR_002957324.1:n.3199C>T
NM_004984.4:c.2966C>T MANE Select	NP_004975.2:p.Ser989Phe
NM_001354705.2:c.2699C>T	NP_001341634.1:p.Ser900Phe