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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:
CA3983601
Gene: TRDN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
408739
ClinVar RCV Id:
RCV000493942
dbSNP Id:
rs202040879
ExAC:
6:123539852 T / A
gnomAD v2:
6-123539852-T-A
gnomAD v3:
6-123218707-T-A
gnomAD v4:
6-123218707-T-A
MyVariant Identifiers:
chr6:g.123539852T>A (hg19)
chr6:g.123218707T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.123218707T>A , CM000668.2:g.123218707T>A
GRCh38
NC_000006.11:g.123539852T>A , CM000668.1:g.123539852T>A
GRCh37
NC_000006.10:g.123581551T>A
NCBI36
NG_030438.1:g.423387A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000334268.9:c.2084A>T
MANE Select
ENSP00000333984.5:p.Asp695Val
ENST00000334268.8:c.2084A>T
ENSP00000333984.5:p.Asp695Val
NM_006073.3:c.2084A>T
NP_006064.2:p.Asp695Val
XM_011535382.1:c.2003A>T
XP_011533684.1:p.Asp668Val
NM_006073.4:c.2084A>T
MANE Select
NP_006064.2:p.Asp695Val
Search 100 bp 5'
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