Canonical Allele Identifier: CA2595849041
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs2148366041
gnomAD v3: 1-34823470-T-C
gnomAD v4: 1-34823470-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823470T>C , CM000663.2:g.34823470T>C GRCh38
NC_000001.10:g.35289071T>C , CM000663.1:g.35289071T>C GRCh37
NC_000001.9:g.35061658T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32301A>G ENSP00000429902.1:n.207+32301A>G
Search 100 bp 5'
Search 100 bp 3'