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Canonical Allele Identifier:
CA10723052
Gene: SCMH1-DT
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr1:g.41307830C>T
GRCh37
chr1:g.41773502C>T
Linked Data - Sequence & Population
gnomAD v2:
1:41773502 C / T
gnomAD v3:
1:41307830 C / T
gnomAD v4:
chr1-41307830-C-T
Joint Max Group AF
0.33384219 (EAS)
Genomes Max Group AF
0.33384219 (EAS)
Linked Data - NCBI & NCI
dbSNP:
12744310
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'