Canonical Allele Identifier: CA20553879
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1016322437
MyVariant Identifiers: chr1:g.35288944C>T (hg19) chr1:g.34823343C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823343C>T , CM000663.2:g.34823343C>T GRCh38
NC_000001.10:g.35288944C>T , CM000663.1:g.35288944C>T GRCh37
NC_000001.9:g.35061531C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000426886.1:c.207+32428G>A ENSP00000429902.1:n.207+32428G>A
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