Canonical Allele Identifier: CA521928896

Gene: SMIM12

Linked Data

• dbSNP Id: rs1423125035
• gnomAD v2: 1-35288974-G-A
• gnomAD v3: 1-34823373-G-A
• gnomAD v4: 1-34823373-G-A
• MyVariant Identifiers: chr1:g.35288974G>A (hg19) ; chr1:g.34823373G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34823373G>A , CM000663.2:g.34823373G>A	GRCh38
NC_000001.10:g.35288974G>A , CM000663.1:g.35288974G>A	GRCh37
NC_000001.9:g.35061561G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000426886.1:c.207+32398C>T	ENSP00000429902.1:n.207+32398C>T