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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:
CA10262514
Gene: TNFRSF13C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440343
ClinVar RCV Id:
RCV000514373
RCV000999907
dbSNP Id:
rs547352394
ExAC:
22:42322281 C / A
gnomAD v2:
22-42322281-C-A
gnomAD v3:
22-41926277-C-A
gnomAD v4:
22-41926277-C-A
MyVariant Identifiers:
chr22:g.42322281C>A (hg19)
chr22:g.41926277C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.41926277C>A , CM000684.2:g.41926277C>A
GRCh38
NC_000022.10:g.42322281C>A , CM000684.1:g.42322281C>A
GRCh37
NC_000022.9:g.40652227C>A
NCBI36
NG_007579.1:g.5541G>T , LRG_184:g.5541G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000291232.5:c.191G>T
MANE Select
ENSP00000291232.3:p.Gly64Val
ENST00000291232.4:c.191G>T
ENSP00000291232.3:p.Gly64Val
NM_052945.3:c.191G>T , LRG_184t1:c.191G>T
NP_443177.1:p.Gly64Val
NM_052945.4:c.191G>T
MANE Select
NP_443177.1:p.Gly64Val
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