Canonical Allele Identifier: CA9578935
Gene: RRAS HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.49635635G>A
GRCh37 chr19:g.50138892G>A
Revel Score:
ENST00000246792 (MANE Select) 0.172
gnomAD v2:
19:50138892 G / A
gnomAD v3:
19:49635635 G / A
gnomAD v4:
chr19-49635635-G-A
Joint Max Group AF 0.00008842 (NFE)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00008927 (NFE)
ClinVar RCV:
RCV001300366
ClinVar Variation:
1003768
dbSNP:
548040971
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49635635G>A , CM000681.2:g.49635635G>A GRCh38
NC_000019.9:g.50138892G>A , CM000681.1:g.50138892G>A GRCh37
NC_000019.8:g.54830704G>A NCBI36
NG_042222.1:g.9509C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000246792.4:c.598C>T MANE Select ENSP00000246792.2:p.Pro200Ser
ENST00000246792.3:c.598C>T ENSP00000246792.2:p.Pro200Ser
NM_006270.3:c.598C>T NP_006261.1:p.Pro200Ser
NM_006270.4:c.598C>T NP_006261.1:p.Pro200Ser
NM_006270.5:c.598C>T MANE Select NP_006261.1:p.Pro200Ser
Search 100 bp 5'
Search 100 bp 3'