Canonical Allele Identifier: CA16430524
Gene: SMIM35 HGNC NCBI
gnomAD v2:
11:117876155 A / G
gnomAD v3:
11:118005440 A / G
gnomAD v4:
chr11-118005440-A-G
Joint Max Group AF 0.2347321 (AFR)
Genomes Max Group AF 0.2346954 (AFR)
Exomes Max Group AF 0.17768 (AFR)
dbSNP:
17121510
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118005440A>G , CM000673.2:g.118005440A>G GRCh38
NC_000011.9:g.117876155A>G , CM000673.1:g.117876155A>G GRCh37
NC_000011.8:g.117381365A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000689828.1:c.*970T>C MANE Select ENSP00000509259.1:n.*970T>C
ENST00000636151.1:c.*1014T>C ENSP00000490666.1:n.*1014T>C
XM_024448283.1:c.*970T>C XP_024304051.1:n.*970T>C
XR_002957112.1:n.1624T>C
XR_002957113.1:n.1140T>C
NM_001394164.1:c.*970T>C NP_001381093.1:n.*970T>C
NM_001394165.1:c.*970T>C MANE Select NP_001381094.1:n.*970T>C
NM_001394166.1:c.*970T>C NP_001381095.1:n.*970T>C
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