Canonical Allele Identifier: CA222895076
Gene: TMEM216 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61393253G>T , CM000673.2:g.61393253G>T GRCh38
NC_000011.9:g.61160725G>T , CM000673.1:g.61160725G>T GRCh37
NC_000011.8:g.60917301G>T NCBI36
NG_032976.1:g.5894G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.10:c.57G>T ENSP00000334844.5:p.Pro19=
ENST00000544795.6:n.334G>T
ENST00000684926.1:n.73G>T
ENST00000688959.1:c.-203G>T ENSP00000509213.1:n.-203G>T
ENST00000690736.1:c.57G>T ENSP00000508542.1:p.Pro19=
ENST00000515837.7:c.57G>T MANE Select ENSP00000440638.1:p.Pro19=
ENST00000334888.9:c.57G>T ENSP00000334844.5:p.Pro19=
ENST00000398979.7:c.-127G>T ENSP00000381950.3:n.-127G>T
ENST00000515837.6:c.57G>T ENSP00000440638.1:p.Pro19=
ENST00000541473.1:n.71G>T
ENST00000544795.5:n.73G>T
NM_001173990.2:c.57G>T NP_001167461.1:p.Pro19=
NM_001173991.2:c.57G>T NP_001167462.1:p.Pro19=
NM_016499.5:c.-127G>T NP_057583.2:n.-127G>T
XM_005274039.3:c.-127G>T XP_005274096.1:n.-127G>T
NM_001330285.1:c.-127G>T NP_001317214.1:n.-127G>T
XM_005274039.4:c.-127G>T XP_005274096.1:n.-127G>T
NM_001173990.3:c.57G>T MANE Select NP_001167461.1:p.Pro19=
NM_001173991.3:c.57G>T NP_001167462.1:p.Pro19=
NM_001330285.2:c.-127G>T NP_001317214.1:n.-127G>T
NM_016499.6:c.-127G>T NP_057583.2:n.-127G>T