Canonical Allele Identifier: CA1084362827

Gene: SMIM23

Linked Data

• dbSNP Id: rs1755644328
• gnomAD v3: 5-171776344-C-G
• gnomAD v4: 5-171776344-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171776344C>G , CM000667.2:g.171776344C>G	GRCh38
NC_000005.9:g.171203348C>G , CM000667.1:g.171203348C>G	GRCh37
NC_000005.8:g.171135953C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011534623.1:c.3+2386C>G	XP_011532925.1:n.3+2386C>G
XM_011534624.1:c.3+2386C>G	XP_011532926.1:n.3+2386C>G
XM_011534623.2:c.3+2386C>G	XP_011532925.1:n.3+2386C>G
XM_011534624.2:c.3+2386C>G	XP_011532926.1:n.3+2386C>G