Canonical Allele Identifier: CA132480110
Gene: SMIM23 HGNC NCBI

Linked Data

dbSNP Id: rs984902520
gnomAD v2: 5-171203379-C-A
gnomAD v3: 5-171776375-C-A
gnomAD v4: 5-171776375-C-A
MyVariant Identifiers: chr5:g.171203379C>A (hg19) chr5:g.171776375C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171776375C>A , CM000667.2:g.171776375C>A GRCh38
NC_000005.9:g.171203379C>A , CM000667.1:g.171203379C>A GRCh37
NC_000005.8:g.171135984C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011534623.1:c.3+2417C>A XP_011532925.1:n.3+2417C>A
XM_011534624.1:c.3+2417C>A XP_011532926.1:n.3+2417C>A
XM_011534623.2:c.3+2417C>A XP_011532925.1:n.3+2417C>A
XM_011534624.2:c.3+2417C>A XP_011532926.1:n.3+2417C>A
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