Canonical Allele Identifier: CA2839392576
Gene: SMIM23 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171776443G>A , CM000667.2:g.171776443G>A GRCh38
NC_000005.9:g.171203447G>A , CM000667.1:g.171203447G>A GRCh37
NC_000005.8:g.171136052G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011534623.1:c.3+2485G>A XP_011532925.1:n.3+2485G>A
XM_011534624.1:c.3+2485G>A XP_011532926.1:n.3+2485G>A
XM_011534623.2:c.3+2485G>A XP_011532925.1:n.3+2485G>A
XM_011534624.2:c.3+2485G>A XP_011532926.1:n.3+2485G>A
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