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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:
CA346800348
Gene: SIX3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.45170022G>C (hg19)
chr2:g.44942883G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.44942883G>C , CM000664.2:g.44942883G>C
GRCh38
NC_000002.11:g.45170022G>C , CM000664.1:g.45170022G>C
GRCh37
NC_000002.10:g.45023526G>C
NCBI36
NG_016222.1:g.5986G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000260653.5:c.779G>C
MANE Select
ENSP00000260653.3:p.Arg260Pro
ENST00000260653.4:c.779G>C
ENSP00000260653.3:p.Arg260Pro
NM_005413.3:c.779G>C
NP_005404.1:p.Arg260Pro
XM_011533042.1:c.779G>C
XP_011531344.1:p.Arg260Pro
NM_005413.4:c.779G>C
MANE Select
NP_005404.1:p.Arg260Pro
Search 100 bp 5'
Search 100 bp 3'