Canonical Allele Identifier: CA132480113

Gene: SMIM23

Linked Data

• dbSNP Id: rs961741884
• gnomAD v2: 5-171203386-A-T
• gnomAD v3: 5-171776382-A-T
• gnomAD v4: 5-171776382-A-T
• MyVariant Identifiers: chr5:g.171203386A>T (hg19) ; chr5:g.171776382A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.171776382A>T , CM000667.2:g.171776382A>T	GRCh38
NC_000005.9:g.171203386A>T , CM000667.1:g.171203386A>T	GRCh37
NC_000005.8:g.171135991A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011534623.1:c.3+2424A>T	XP_011532925.1:n.3+2424A>T
XM_011534624.1:c.3+2424A>T	XP_011532926.1:n.3+2424A>T
XM_011534623.2:c.3+2424A>T	XP_011532925.1:n.3+2424A>T
XM_011534624.2:c.3+2424A>T	XP_011532926.1:n.3+2424A>T