Canonical Allele Identifier: CA6653231
Gene: KIF5A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57581540G>A
GRCh37 chr12:g.57975323G>A
Revel Score:
ENST00000455537 (MANE Select) 0.167
ENST00000286452 0.167
ENST00000547989 0.167
gnomAD v2:
12:57975323 G / A
gnomAD v3:
12:57581540 G / A
gnomAD v4:
chr12-57581540-G-A
Joint Max Group AF 0.00013403 (MID)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00014138 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57581540G>A , CM000674.2:g.57581540G>A GRCh38
NC_000012.11:g.57975323G>A , CM000674.1:g.57975323G>A GRCh37
NC_000012.10:g.56261590G>A NCBI36
NG_008155.1:g.36477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455537.7:c.2881G>A MANE Select ENSP00000408979.2:p.Ala961Thr
ENST00000674619.1:c.2902G>A ENSP00000502270.1:p.Ala968Thr
ENST00000674776.1:c.389G>A ENSP00000502434.1:n.389G>A
ENST00000675634.1:c.376G>A ENSP00000502231.1:p.Ala126Thr
ENST00000675737.1:n.285G>A
ENST00000675882.1:n.2103G>A
ENST00000675929.1:n.1439G>A
ENST00000676457.1:c.2776G>A ENSP00000501588.1:p.Ala926Thr
ENST00000286452.5:c.2614G>A ENSP00000286452.5:p.Ala872Thr
ENST00000455537.6:c.2881G>A ENSP00000408979.2:p.Ala961Thr
NM_004984.2:c.2881G>A NP_004975.2:p.Ala961Thr
NM_001354705.1:c.2614G>A NP_001341634.1:p.Ala872Thr
NM_004984.3:c.2881G>A NP_004975.2:p.Ala961Thr
XR_002957324.1:n.3114G>A
NM_004984.4:c.2881G>A MANE Select NP_004975.2:p.Ala961Thr
NM_001354705.2:c.2614G>A NP_001341634.1:p.Ala872Thr
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