Canonical Allele Identifier: CA735291011
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1448808155
MyVariant Identifiers: chr1:g.35289101G>A (hg19) chr1:g.34823500G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823500G>A , CM000663.2:g.34823500G>A GRCh38
NC_000001.10:g.35289101G>A , CM000663.1:g.35289101G>A GRCh37
NC_000001.9:g.35061688G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000426886.1:c.207+32271C>T ENSP00000429902.1:n.207+32271C>T
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