Canonical Allele Identifier: CA807545693
Gene: SMIM23 HGNC NCBI

Linked Data

dbSNP Id: rs1206545911
gnomAD v3: 5-171776461-C-T
gnomAD v4: 5-171776461-C-T
MyVariant Identifiers: chr5:g.171203465C>T (hg19) chr5:g.171776461C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171776461C>T , CM000667.2:g.171776461C>T GRCh38
NC_000005.9:g.171203465C>T , CM000667.1:g.171203465C>T GRCh37
NC_000005.8:g.171136070C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011534623.1:c.3+2503C>T XP_011532925.1:n.3+2503C>T
XM_011534624.1:c.3+2503C>T XP_011532926.1:n.3+2503C>T
XM_011534623.2:c.3+2503C>T XP_011532925.1:n.3+2503C>T
XM_011534624.2:c.3+2503C>T XP_011532926.1:n.3+2503C>T
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