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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:
CA354950
Gene: CTR9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224155
ClinVar RCV Id:
RCV000209881
RCV001796967
RCV002272176
dbSNP Id:
rs869312709
gnomAD v4:
11-10763811-G-A
COSMIC:
COSM3764275
MyVariant Identifiers:
chr11:g.10785358G>A (hg19)
chr11:g.10763811G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.10763811G>A , CM000673.2:g.10763811G>A
GRCh38
NC_000011.9:g.10785358G>A , CM000673.1:g.10785358G>A
GRCh37
NC_000011.8:g.10741934G>A
NCBI36
NG_051671.1:g.17825G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000361367.7:c.1126G>A
MANE Select
ENSP00000355013.2:p.Glu376Lys
ENST00000361367.6:c.1126G>A
ENSP00000355013.2:p.Glu376Lys
NM_014633.4:c.1126G>A
NP_055448.1:p.Glu376Lys
NM_001346279.1:c.1126G>A
NP_001333208.1:p.Glu376Lys
NM_014633.5:c.1126G>A
MANE Select
NP_055448.1:p.Glu376Lys
NM_001346279.2:c.1126G>A
NP_001333208.1:p.Glu376Lys
Search 100 bp 5'
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