Canonical Allele Identifier: CA735291009
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1335465124
MyVariant Identifiers: chr1:g.35289089G>A (hg19) chr1:g.34823488G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823488G>A , CM000663.2:g.34823488G>A GRCh38
NC_000001.10:g.35289089G>A , CM000663.1:g.35289089G>A GRCh37
NC_000001.9:g.35061676G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32283C>T ENSP00000429902.1:n.207+32283C>T
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