Canonical Allele Identifier: CA10921480
Gene: SMIM12 HGNC NCBI
COSMIC:
COSN17911108 (not active)
MyVariant.info:
GRCh38 chr1:g.34823438G>A
GRCh37 chr1:g.35289039G>A
gnomAD v2:
1:35289039 G / A
gnomAD v3:
1:34823438 G / A
gnomAD v4:
chr1-34823438-G-A
Joint Max Group AF 0.67344325 (AMR)
Genomes Max Group AF 0.67344325 (AMR)
dbSNP:
7526035
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34823438G>A , CM000663.2:g.34823438G>A GRCh38
NC_000001.10:g.35289039G>A , CM000663.1:g.35289039G>A GRCh37
NC_000001.9:g.35061626G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000426886.1:c.207+32333C>T ENSP00000429902.1:n.207+32333C>T
Search 100 bp 5'
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