Allele Registry

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.

Canonical Allele Identifier: CA1000448693

Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1640610285

gnomAD v3: 1-34823457-A-G

gnomAD v4: 1-34823457-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34823457A>G , CM000663.2:g.34823457A>G	GRCh38
NC_000001.10:g.35289058A>G , CM000663.1:g.35289058A>G	GRCh37
NC_000001.9:g.35061645A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000426886.1:c.207+32314T>C	ENSP00000429902.1:n.207+32314T>C

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