Canonical Allele Identifier: CA735290997
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1460386769
MyVariant Identifiers: chr1:g.35289044T>C (hg19) chr1:g.34823443T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823443T>C , CM000663.2:g.34823443T>C GRCh38
NC_000001.10:g.35289044T>C , CM000663.1:g.35289044T>C GRCh37
NC_000001.9:g.35061631T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32328A>G ENSP00000429902.1:n.207+32328A>G
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