ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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
MyVariant Identifiers:
chr1:g.41773502C>T (hg19)
chr1:g.41307830C>T (hg38)
JSON-LD
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
Search 100 bp 5'
Search 100 bp 3'