Canonical Allele Identifier: CA807545573

Gene: SMIM23

Linked Data

• dbSNP Id: rs374231962
• gnomAD v3: 5-171776341-G-C
• gnomAD v4: 5-171776341-G-C
• MyVariant Identifiers: chr5:g.171203345G>C (hg19) ; chr5:g.171776341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171776341G>C , CM000667.2:g.171776341G>C	GRCh38
NC_000005.9:g.171203345G>C , CM000667.1:g.171203345G>C	GRCh37
NC_000005.8:g.171135950G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011534623.1:c.3+2383G>C	XP_011532925.1:n.3+2383G>C
XM_011534624.1:c.3+2383G>C	XP_011532926.1:n.3+2383G>C
XM_011534623.2:c.3+2383G>C	XP_011532925.1:n.3+2383G>C
XM_011534624.2:c.3+2383G>C	XP_011532926.1:n.3+2383G>C