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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:
CA10651788
Gene: RAB39B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
368139
ClinVar RCV Id:
RCV000358042
dbSNP Id:
rs185958813
gnomAD v2:
X-154489048-G-A
gnomAD v3:
X-155259763-G-A
gnomAD v4:
X-155259763-G-A
MyVariant Identifiers:
chrX:g.154489048G>A (hg19)
chrX:g.155259763G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.155259763G>A , CM000685.2:g.155259763G>A
GRCh38
NC_000023.10:g.154489048G>A , CM000685.1:g.154489048G>A
GRCh37
NC_000023.9:g.154142242G>A
NCBI36
NG_012626.2:g.9799C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000369454.4:c.*1040C>T
MANE Select
ENSP00000358466.3:n.*1040C>T
ENST00000369454.3:c.*1040C>T
ENSP00000358466.3:n.*1040C>T
NM_171998.3:c.*1040C>T
NP_741995.1:n.*1040C>T
NM_171998.4:c.*1040C>T
MANE Select
NP_741995.1:n.*1040C>T
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