Canonical Allele Identifier: CA10723052
Gene: SCMH1-DT HGNC NCBI

Linked Data

dbSNP Id: rs12744310
gnomAD v2: 1-41773502-C-T
gnomAD v3: 1-41307830-C-T
gnomAD v4: 1-41307830-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.41307830C>T , CM000663.2:g.41307830C>T GRCh38
NC_000001.10:g.41773502C>T , CM000663.1:g.41773502C>T GRCh37
NC_000001.9:g.41546089C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947249.1:n.501-18128C>T