Canonical Allele Identifier: CA20553890
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs144983994
gnomAD v2: 1-35288953-C-T
gnomAD v3: 1-34823352-C-T
gnomAD v4: 1-34823352-C-T
MyVariant Identifiers: chr1:g.35288953C>T (hg19) chr1:g.34823352C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823352C>T , CM000663.2:g.34823352C>T GRCh38
NC_000001.10:g.35288953C>T , CM000663.1:g.35288953C>T GRCh37
NC_000001.9:g.35061540C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000426886.1:c.207+32419G>A ENSP00000429902.1:n.207+32419G>A
Search 100 bp 5'
Search 100 bp 3'