Canonical Allele Identifier: CA222894068
Gene: TMEM216 HGNC NCBI

Linked Data

dbSNP Id: rs368944330
gnomAD v2: 11-61159751-T-C
gnomAD v3: 11-61392279-T-C
gnomAD v4: 11-61392279-T-C
MyVariant Identifiers: chr11:g.61159751T>C (hg19) chr11:g.61392279T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61392279T>C , CM000673.2:g.61392279T>C GRCh38
NC_000011.9:g.61159751T>C , CM000673.1:g.61159751T>C GRCh37
NC_000011.8:g.60916327T>C NCBI36
NG_032976.1:g.4920T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000515837.6:c.-353T>C ENSP00000440638.1:n.-353T>C
XM_005274039.3:c.-684T>C XP_005274096.1:n.-684T>C
XM_005274039.4:c.-684T>C XP_005274096.1:n.-684T>C
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