Canonical Allele Identifier: CA807545577
Gene: SMIM23 HGNC NCBI

Linked Data

dbSNP Id: rs1017223428

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171776346C>G , CM000667.2:g.171776346C>G GRCh38
NC_000005.9:g.171203350C>G , CM000667.1:g.171203350C>G GRCh37
NC_000005.8:g.171135955C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011534623.1:c.3+2388C>G XP_011532925.1:n.3+2388C>G
XM_011534624.1:c.3+2388C>G XP_011532926.1:n.3+2388C>G
XM_011534623.2:c.3+2388C>G XP_011532925.1:n.3+2388C>G
XM_011534624.2:c.3+2388C>G XP_011532926.1:n.3+2388C>G