Canonical Allele Identifier: CA6652524
Community Standard Title: NM_004984.4(KIF5A):c.171G>A (p.Thr57=)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57563480G>A , CM000674.2:g.57563480G>A GRCh38
NC_000012.11:g.57957263G>A , CM000674.1:g.57957263G>A GRCh37
NC_000012.10:g.56243530G>A NCBI36
NG_008155.1:g.18417G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.171G>A MANE Select NP_004975.2:p.Thr57=
ENST00000455537.7:c.171G>A MANE Select ENSP00000408979.2:p.Thr57=
NM_001354705.1:c.130-980G>A NP_001341634.1:n.130-980G>A
NM_001354705.2:c.130-980G>A NP_001341634.1:n.130-980G>A
NM_004984.2:c.171G>A NP_004975.2:p.Thr57=
NM_004984.3:c.171G>A NP_004975.2:p.Thr57=
ENST00000286452.5:c.130-980G>A ENSP00000286452.5:n.130-980G>A
ENST00000455537.6:c.171G>A ENSP00000408979.2:p.Thr57=
ENST00000674619.1:c.171G>A ENSP00000502270.1:p.Thr57=
ENST00000675023.1:c.*154G>A ENSP00000502553.1:n.*154G>A
ENST00000675216.1:c.*22G>A ENSP00000502608.1:n.*22G>A
ENST00000676250.1:c.-24-628G>A ENSP00000501749.1:n.-24-628G>A
ENST00000676359.1:c.130-628G>A ENSP00000502609.1:n.130-628G>A
ENST00000676457.1:c.171G>A ENSP00000501588.1:p.Thr57=
XR_002957324.1:n.404G>A