Canonical Allele Identifier: CA3573454
Gene: UNC5A HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.176877543T>A
GRCh37 chr5:g.176304544T>A
Revel Score:
ENST00000329542 (MANE Select) 0.310
ENST00000261961 0.310
gnomAD v2:
5:176304544 T / A
gnomAD v3:
5:176877543 T / A
gnomAD v4:
chr5-176877543-T-A
Joint Max Group AF 0.00001583 (NFE)
Exomes Max Group AF 0.00001644 (NFE)
ClinVar RCV:
RCV004095866
ClinVar Variation:
2232324
dbSNP:
760615400
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.176877543T>A , CM000667.2:g.176877543T>A GRCh38
NC_000005.9:g.176304544T>A , CM000667.1:g.176304544T>A GRCh37
NC_000005.8:g.176237150T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329542.9:c.1475T>A MANE Select ENSP00000332737.4:p.Leu492Gln
ENST00000509580.2:c.1643T>A ENSP00000421795.2:p.Leu548Gln
ENST00000329542.8:c.1475T>A ENSP00000332737.4:p.Leu492Gln
NM_133369.2:c.1475T>A NP_588610.2:p.Leu492Gln
XM_006714927.1:c.1475T>A XP_006714990.1:p.Leu492Gln
XM_006714928.1:c.1643T>A XP_006714991.1:p.Leu548Gln
XM_011534686.1:c.1643T>A XP_011532988.1:p.Leu548Gln
NM_133369.3:c.1475T>A MANE Select NP_588610.2:p.Leu492Gln
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