Canonical Allele Identifier: CA132480107
Gene: SMIM23 HGNC NCBI

Linked Data

dbSNP Id: rs1013485671
MyVariant Identifiers: chr5:g.171776355T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171776355T>C , CM000667.2:g.171776355T>C GRCh38
NC_000005.9:g.171203359T>C , CM000667.1:g.171203359T>C GRCh37
NC_000005.8:g.171135964T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011534623.1:c.3+2397T>C XP_011532925.1:n.3+2397T>C
XM_011534624.1:c.3+2397T>C XP_011532926.1:n.3+2397T>C
XM_011534623.2:c.3+2397T>C XP_011532925.1:n.3+2397T>C
XM_011534624.2:c.3+2397T>C XP_011532926.1:n.3+2397T>C