Canonical Allele Identifier: CA735290959

Gene: SMIM12

Linked Data

• dbSNP Id: rs1273731705
• gnomAD v3: 1-34823360-A-G
• gnomAD v4: 1-34823360-A-G
• MyVariant Identifiers: chr1:g.35288961A>G (hg19) ; chr1:g.34823360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34823360A>G , CM000663.2:g.34823360A>G	GRCh38
NC_000001.10:g.35288961A>G , CM000663.1:g.35288961A>G	GRCh37
NC_000001.9:g.35061548A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000426886.1:c.207+32411T>C	ENSP00000429902.1:n.207+32411T>C