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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:
CA10529119
Gene: TM9SF5P
HGNC
NCBI
GPR101
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445921
ClinVar RCV Id:
RCV000514387
dbSNP Id:
rs73637412
ExAC:
X:136112910 C / T
gnomAD v2:
X-136112910-C-T
gnomAD v3:
X-137030751-C-T
gnomAD v4:
X-137030751-C-T
MyVariant Identifiers:
chrX:g.136112910C>T (hg19)
chrX:g.137030751C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.137030751C>T , CM000685.2:g.137030751C>T
GRCh38
NC_000023.10:g.136112910C>T , CM000685.1:g.136112910C>T
GRCh37
NC_000023.9:g.135940576C>T
NCBI36
NG_016367.1:g.5924G>A
NG_016367.2:g.8245G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000693626.1:n.358-29774C>T
(TM9SF5P)
ENST00000651716.2:c.924G>A
(GPR101)
MANE Select
ENSP00000498972.1:p.Glu308=
ENST00000298110.1:c.924G>A
(GPR101)
ENSP00000298110.1:p.Glu308=
NM_054021.1:c.924G>A
(GPR101)
NP_473362.1:p.Glu308=
NM_054021.2:c.924G>A
(GPR101)
MANE Select
NP_473362.1:p.Glu308=
Search 100 bp 5'
Search 100 bp 3'