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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:
CA323103331
Gene: RASL10A
HGNC
NCBI
Linked Data
dbSNP Id:
rs1049095764
gnomAD v2:
22-29709040-C-T
gnomAD v3:
22-29313051-C-T
gnomAD v4:
22-29313051-C-T
MyVariant Identifiers:
chr22:g.29709040C>T (hg19)
chr22:g.29313051C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.29313051C>T , CM000684.2:g.29313051C>T
GRCh38
NC_000022.10:g.29709040C>T , CM000684.1:g.29709040C>T
GRCh37
NC_000022.9:g.28039040C>T
NCBI36
NG_032959.1:g.11045C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000216101.7:c.*250G>A
MANE Select
ENSP00000216101.6:n.*250G>A
ENST00000216101.6:c.*250G>A
ENSP00000216101.6:n.*250G>A
ENST00000401450.3:c.*808G>A
ENSP00000386095.3:n.*808G>A
NM_006477.4:c.*250G>A
NP_006468.1:n.*250G>A
XM_011529821.1:c.*250G>A
XP_011528123.1:n.*250G>A
XM_011529822.1:c.*250G>A
XP_011528124.1:n.*250G>A
XM_011529823.1:c.*250G>A
XP_011528125.1:n.*250G>A
NM_006477.5:c.*250G>A
MANE Select
NP_006468.1:n.*250G>A
Search 100 bp 5'
Search 100 bp 3'