Canonical Allele Identifier: CA1000946188
Gene: SCMH1-DT HGNC NCBI

Linked Data

dbSNP Id: rs2154319
gnomAD v3: 1-41280098-T-G
gnomAD v4: 1-41280098-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.41280098T>G , CM000663.2:g.41280098T>G GRCh38
NC_000001.10:g.41745770T>G , CM000663.1:g.41745770T>G GRCh37
NC_000001.9:g.41518357T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947249.1:n.500+19225T>G
XR_947251.1:n.494+19225T>G
Search 100 bp 5'
Search 100 bp 3'