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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:
CA351533958
Gene: TMEM43
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.14166695T>G (hg19)
chr3:g.14125195T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.14125195T>G , CM000665.2:g.14125195T>G
GRCh38
NC_000003.11:g.14166695T>G , CM000665.1:g.14166695T>G
GRCh37
NC_000003.10:g.14141696T>G
NCBI36
NG_008975.1:g.5256T>G , LRG_435:g.5256T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000432444.2:c.2T>G
ENSP00000395617.1:p.Met1Arg
ENST00000306077.5:c.2T>G
MANE Select
ENSP00000303992.5:p.Met1Arg
ENST00000306077.4:c.2T>G
ENSP00000303992.4:p.Met1Arg
ENST00000432444.1:c.2T>G
ENSP00000395617.1:p.Met1Arg
NM_024334.2:c.2T>G , LRG_435t1:c.2T>G
NP_077310.1:p.Met1Arg
XM_017007176.2:c.-335T>G
XP_016862665.1:n.-335T>G
NM_024334.3:c.2T>G
MANE Select
NP_077310.1:p.Met1Arg
Search 100 bp 5'
Search 100 bp 3'