Canonical Allele Identifier: CA20553966

Gene: SMIM12

Linked Data

• dbSNP Id: rs941837431
• gnomAD v3: 1-34823453-T-C
• gnomAD v4: 1-34823453-T-C
• MyVariant Identifiers: chr1:g.35289054T>C (hg19) ; chr1:g.34823453T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34823453T>C , CM000663.2:g.34823453T>C	GRCh38
NC_000001.10:g.35289054T>C , CM000663.1:g.35289054T>C	GRCh37
NC_000001.9:g.35061641T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426886.1:c.207+32318A>G	ENSP00000429902.1:n.207+32318A>G