Canonical Allele Identifier: CA678971522
Gene: TMEM216 HGNC NCBI

Linked Data

ClinVar Variation Id: 878304
ClinVar RCV Id: RCV001104750 RCV001104749
dbSNP Id: rs1365742655
gnomAD v3: 11-61392368-C-T
gnomAD v4: 11-61392368-C-T
MyVariant Identifiers: chr11:g.61159840C>T (hg19) chr11:g.61392368C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61392368C>T , CM000673.2:g.61392368C>T GRCh38
NC_000011.9:g.61159840C>T , CM000673.1:g.61159840C>T GRCh37
NC_000011.8:g.60916416C>T NCBI36
NG_032976.1:g.5009C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.9:c.-264C>T ENSP00000334844.5:n.-264C>T
ENST00000515837.6:c.-264C>T ENSP00000440638.1:n.-264C>T
NM_001173990.2:c.-264C>T NP_001167461.1:n.-264C>T
NM_001173991.2:c.-264C>T NP_001167462.1:n.-264C>T
XM_005274039.3:c.-595C>T XP_005274096.1:n.-595C>T
NM_001330285.1:c.-461C>T NP_001317214.1:n.-461C>T
XM_005274039.4:c.-595C>T XP_005274096.1:n.-595C>T
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