Canonical Allele Identifier: CA385492999

Gene: KIF5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57563526G>A , CM000674.2:g.57563526G>A	GRCh38
NC_000012.11:g.57957309G>A , CM000674.1:g.57957309G>A	GRCh37
NC_000012.10:g.56243576G>A	NCBI36
NG_008155.1:g.18463G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004984.4:c.217G>A MANE Select	NP_004975.2:p.Asp73Asn
ENST00000455537.7:c.217G>A MANE Select	ENSP00000408979.2:p.Asp73Asn
NM_001354705.1:c.130-934G>A	NP_001341634.1:n.130-934G>A
NM_001354705.2:c.130-934G>A	NP_001341634.1:n.130-934G>A
NM_004984.2:c.217G>A	NP_004975.2:p.Asp73Asn
NM_004984.3:c.217G>A	NP_004975.2:p.Asp73Asn
ENST00000286452.5:c.130-934G>A	ENSP00000286452.5:n.130-934G>A
ENST00000455537.6:c.217G>A	ENSP00000408979.2:p.Asp73Asn
ENST00000674619.1:c.217G>A	ENSP00000502270.1:p.Asp73Asn
ENST00000675023.1:c.*200G>A	ENSP00000502553.1:n.*200G>A
ENST00000675216.1:c.*68G>A	ENSP00000502608.1:n.*68G>A
ENST00000676250.1:c.-24-582G>A	ENSP00000501749.1:n.-24-582G>A
ENST00000676359.1:c.130-582G>A	ENSP00000502609.1:n.130-582G>A
ENST00000676457.1:c.217G>A	ENSP00000501588.1:p.Asp73Asn
XR_002957324.1:n.450G>A