Canonical Allele Identifier: CA16041470
Gene: TMEM216 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371778
dbSNP Id: rs1057517528

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393229A>G , CM000673.2:g.61393229A>G GRCh38
NC_000011.8:g.60917277A>G NCBI36
NC_000011.9:g.61160701A>G , CM000673.1:g.61160701A>G GRCh37
NG_032976.1:g.5870A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000334888.9:c.35-2A>G ENSP00000334844.5:p.=
ENST00000398979.7:c.-149-2A>G ENSP00000381950.3:p.=
ENST00000515837.6:c.35-2A>G ENSP00000440638.1:p.=
ENST00000541473.1:n.49-2A>G
ENST00000544795.5:n.51-2A>G
NM_001173990.2:c.35-2A>G VV NP_001167461.1:p.=
NM_001173991.2:c.35-2A>G VV NP_001167462.1:p.=
NM_016499.5:c.-149-2A>G VV NP_057583.2:p.=
XM_005274039.3:c.-149-2A>G XP_005274096.1:p.=