Canonical Allele Identifier: CA222894135
Gene: TMEM216 HGNC NCBI

Linked Data

dbSNP Id: rs572198448
gnomAD v3: 11-61392383-C-T
gnomAD v4: 11-61392383-C-T
MyVariant Identifiers: chr11:g.61159855C>T (hg19) chr11:g.61392383C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61392383C>T , CM000673.2:g.61392383C>T GRCh38
NC_000011.9:g.61159855C>T , CM000673.1:g.61159855C>T GRCh37
NC_000011.8:g.60916431C>T NCBI36
NG_032976.1:g.5024C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.9:c.-249C>T ENSP00000334844.5:n.-249C>T
ENST00000515837.6:c.-249C>T ENSP00000440638.1:n.-249C>T
NM_001173990.2:c.-249C>T NP_001167461.1:n.-249C>T
NM_001173991.2:c.-249C>T NP_001167462.1:n.-249C>T
XM_005274039.3:c.-580C>T XP_005274096.1:n.-580C>T
NM_001330285.1:c.-446C>T NP_001317214.1:n.-446C>T
XM_005274039.4:c.-580C>T XP_005274096.1:n.-580C>T
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