Canonical Allele Identifier: CA735290971

Gene: SMIM12

Linked Data

• dbSNP Id: rs1438214846
• gnomAD v3: 1-34823404-G-C
• gnomAD v4: 1-34823404-G-C
• MyVariant Identifiers: chr1:g.35289005G>C (hg19) ; chr1:g.34823404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34823404G>C , CM000663.2:g.34823404G>C	GRCh38
NC_000001.10:g.35289005G>C , CM000663.1:g.35289005G>C	GRCh37
NC_000001.9:g.35061592G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000426886.1:c.207+32367C>G	ENSP00000429902.1:n.207+32367C>G