Canonical Allele Identifier: CA129626
Gene: TMEM216 HGNC NCBI

Linked Data

ClinVar Variation Id: 198
dbSNP Id: rs201108965

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393965G>A , CM000673.2:g.61393965G>A GRCh38
NC_000011.9:g.61161437G>A , CM000673.1:g.61161437G>A GRCh37
NC_000011.8:g.60918013G>A NCBI36
NG_032976.1:g.6606G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.10:c.218G>A ENSP00000334844.5:p.Arg73His
ENST00000544795.6:n.495G>A
ENST00000684926.1:n.234G>A
ENST00000688959.1:c.-42G>A ENSP00000509213.1:n.-42G>A
ENST00000690736.1:c.218G>A ENSP00000508542.1:p.Arg73His
ENST00000515837.7:c.218G>A MANE Select ENSP00000440638.1:p.Arg73His
ENST00000334888.9:c.218G>A ENSP00000334844.5:p.Arg73His
ENST00000398979.7:c.35G>A ENSP00000381950.3:p.Arg12His
ENST00000515837.6:c.218G>A ENSP00000440638.1:p.Arg73His
ENST00000541473.1:n.232G>A
ENST00000544795.5:n.234G>A
NM_001173990.2:c.218G>A NP_001167461.1:p.Arg73His
NM_001173991.2:c.218G>A NP_001167462.1:p.Arg73His
NM_016499.5:c.35G>A NP_057583.2:p.Arg12His
XM_005274039.3:c.35G>A XP_005274096.1:p.Arg12His
NM_001330285.1:c.35G>A NP_001317214.1:p.Arg12His
XM_005274039.4:c.35G>A XP_005274096.1:p.Arg12His
NM_001173990.3:c.218G>A MANE Select NP_001167461.1:p.Arg73His
NM_001173991.3:c.218G>A NP_001167462.1:p.Arg73His
NM_001330285.2:c.35G>A NP_001317214.1:p.Arg12His
NM_016499.6:c.35G>A NP_057583.2:p.Arg12His