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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA9579015
Gene: RRAS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496317
ClinVar RCV Id:
RCV002061985
dbSNP Id:
rs117957448
ExAC:
19:50139856 G / A
gnomAD v2:
19-50139856-G-A
gnomAD v3:
19-49636599-G-A
gnomAD v4:
19-49636599-G-A
MyVariant Identifiers:
chr19:g.50139856G>A (hg19)
chr19:g.49636599G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.49636599G>A , CM000681.2:g.49636599G>A
GRCh38
NC_000019.9:g.50139856G>A , CM000681.1:g.50139856G>A
GRCh37
NC_000019.8:g.54831668G>A
NCBI36
NG_042222.1:g.8545C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000246792.4:c.453+20C>T
MANE Select
ENSP00000246792.2:n.453+20C>T
ENST00000246792.3:c.453+20C>T
ENSP00000246792.2:n.453+20C>T
ENST00000601532.1:n.593+20C>T
NM_006270.3:c.453+20C>T
NP_006261.1:n.453+20C>T
NM_006270.4:c.453+20C>T
NP_006261.1:n.453+20C>T
NM_006270.5:c.453+20C>T
MANE Select
NP_006261.1:n.453+20C>T
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