Canonical Allele Identifier: CA10638809
Gene: TMEM216 HGNC NCBI

Linked Data

ClinVar Variation Id: 305072
ClinVar RCV Id: RCV000362972 RCV000403982
dbSNP Id: rs756981776
gnomAD v3: 11-61392390-C-T
gnomAD v4: 11-61392390-C-T
MyVariant Identifiers: chr11:g.61159862C>T (hg19) chr11:g.61392390C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61392390C>T , CM000673.2:g.61392390C>T GRCh38
NC_000011.9:g.61159862C>T , CM000673.1:g.61159862C>T GRCh37
NC_000011.8:g.60916438C>T NCBI36
NG_032976.1:g.5031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.9:c.-242C>T ENSP00000334844.5:n.-242C>T
ENST00000515837.6:c.-242C>T ENSP00000440638.1:n.-242C>T
NM_001173990.2:c.-242C>T NP_001167461.1:n.-242C>T
NM_001173991.2:c.-242C>T NP_001167462.1:n.-242C>T
XM_005274039.3:c.-573C>T XP_005274096.1:n.-573C>T
NM_001330285.1:c.-439C>T NP_001317214.1:n.-439C>T
XM_005274039.4:c.-573C>T XP_005274096.1:n.-573C>T
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