Canonical Allele Identifier: CA132480101
Gene: SMIM23 HGNC NCBI

Linked Data

dbSNP Id: rs995659276
MyVariant Identifiers: chr5:g.171203338A>G (hg19) chr5:g.171776334A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.171776334A>G , CM000667.2:g.171776334A>G GRCh38
NC_000005.9:g.171203338A>G , CM000667.1:g.171203338A>G GRCh37
NC_000005.8:g.171135943A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_011534623.1:c.3+2376A>G XP_011532925.1:n.3+2376A>G
XM_011534624.1:c.3+2376A>G XP_011532926.1:n.3+2376A>G
XM_011534623.2:c.3+2376A>G XP_011532925.1:n.3+2376A>G
XM_011534624.2:c.3+2376A>G XP_011532926.1:n.3+2376A>G
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