Canonical Allele Identifier: CA9579087
Gene: RRAS HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.49636915C>T
GRCh37 chr19:g.50140172C>T
Revel Score:
ENST00000246792 (MANE Select) 0.825
gnomAD v2:
19:50140172 C / T
gnomAD v3:
19:49636915 C / T
gnomAD v4:
chr19-49636915-C-T
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV003642830
ClinVar Variation:
2911366
dbSNP:
774218911
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49636915C>T , CM000681.2:g.49636915C>T GRCh38
NC_000019.9:g.50140172C>T , CM000681.1:g.50140172C>T GRCh37
NC_000019.8:g.54831984C>T NCBI36
NG_042222.1:g.8229G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000246792.4:c.253G>A MANE Select ENSP00000246792.2:p.Ala85Thr
ENST00000246792.3:c.253G>A ENSP00000246792.2:p.Ala85Thr
ENST00000601532.1:n.393G>A
NM_006270.3:c.253G>A NP_006261.1:p.Ala85Thr
NM_006270.4:c.253G>A NP_006261.1:p.Ala85Thr
NM_006270.5:c.253G>A MANE Select NP_006261.1:p.Ala85Thr
Search 100 bp 5'
Search 100 bp 3'