Canonical Allele Identifier: CA10921480
Gene: SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs7526035
gnomAD v2: 1-35289039-G-A
gnomAD v3: 1-34823438-G-A
gnomAD v4: 1-34823438-G-A

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