Canonical Allele Identifier: CA807545594

Gene: SMIM23

Linked Data

• dbSNP Id: rs1411485787
• gnomAD v3: 5-171776351-C-A
• gnomAD v4: 5-171776351-C-A
• MyVariant Identifiers: chr5:g.171203355C>A (hg19) ; chr5:g.171776351C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171776351C>A , CM000667.2:g.171776351C>A	GRCh38
NC_000005.9:g.171203355C>A , CM000667.1:g.171203355C>A	GRCh37
NC_000005.8:g.171135960C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011534623.1:c.3+2393C>A	XP_011532925.1:n.3+2393C>A
XM_011534624.1:c.3+2393C>A	XP_011532926.1:n.3+2393C>A
XM_011534623.2:c.3+2393C>A	XP_011532925.1:n.3+2393C>A
XM_011534624.2:c.3+2393C>A	XP_011532926.1:n.3+2393C>A