Canonical Allele Identifier: CA1600979176
Gene: SMIM23 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171776296C= , CM000667.2:g.171776296C= GRCh38
NC_000005.9:g.171203300C= , CM000667.1:g.171203300C= GRCh37
NC_000005.8:g.171135905C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011534623.1:c.3+2338C= XP_011532925.1:n.3+2338C=
XM_011534624.1:c.3+2338C= XP_011532926.1:n.3+2338C=
XM_011534623.2:c.3+2338C= XP_011532925.1:n.3+2338C=
XM_011534624.2:c.3+2338C= XP_011532926.1:n.3+2338C=