Canonical Allele Identifier: CA16041469
Gene: TMEM216 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371740
dbSNP Id: rs1057517498

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61392667T>C , CM000673.2:g.61392667T>C GRCh38
NC_000011.9:g.61160139T>C , CM000673.1:g.61160139T>C GRCh37
NC_000011.8:g.60916715T>C NCBI36
NG_032976.1:g.5308T>C

Transcript Alleles

HGVS Amino-acid change
NM_001173990.2:c.34+2T>C VV NP_001167461.1:p.=
NM_001173991.2:c.34+2T>C VV NP_001167462.1:p.=
NM_016499.5:c.-162T>C VV NP_057583.2:p.=
XM_005274039.3:c.-296T>C XP_005274096.1:p.=
NM_001330285.1:c.-162T>C VV NP_001317214.1:p.=
XM_005274039.4:c.-296T>C
ENST00000334888.9:c.34+2T>C ENSP00000334844.5:p.=
ENST00000398979.7:c.-162T>C ENSP00000381950.3:p.=
ENST00000515837.6:c.34+2T>C ENSP00000440638.1:p.=
ENST00000541473.1:n.36T>C
ENST00000544795.5:n.38T>C