Canonical Allele Identifier: CA2613838968

Gene: TMEM216

Linked Data

• gnomAD v4: 11-61397611-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61397611A>C , CM000673.2:g.61397611A>C	GRCh38
NC_000011.9:g.61165083A>C , CM000673.1:g.61165083A>C	GRCh37
NC_000011.8:g.60921659A>C	NCBI36
NG_032976.1:g.10252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.230-163A>C	ENSP00000334844.5:n.230-163A>C
ENST00000544795.6:n.507-117A>C
ENST00000684926.1:n.246-117A>C
ENST00000688959.1:c.-21-171A>C	ENSP00000509213.1:n.-21-171A>C
ENST00000690736.1:c.230-117A>C	ENSP00000508542.1:n.230-117A>C
ENST00000515837.7:c.230-163A>C MANE Select	ENSP00000440638.1:n.230-163A>C
ENST00000334888.9:c.230-163A>C	ENSP00000334844.5:n.230-163A>C
ENST00000398979.7:c.47-163A>C	ENSP00000381950.3:n.47-163A>C
ENST00000515837.6:c.230-163A>C	ENSP00000440638.1:n.230-163A>C
ENST00000544795.5:n.246-117A>C
NM_001173990.2:c.230-163A>C	NP_001167461.1:n.230-163A>C
NM_001173991.2:c.230-163A>C	NP_001167462.1:n.230-163A>C
NM_016499.5:c.47-163A>C	NP_057583.2:n.47-163A>C
XM_005274039.3:c.47-163A>C	XP_005274096.1:n.47-163A>C
NM_001330285.1:c.47-163A>C	NP_001317214.1:n.47-163A>C
XM_005274039.4:c.47-163A>C	XP_005274096.1:n.47-163A>C
NM_001173990.3:c.230-163A>C MANE Select	NP_001167461.1:n.230-163A>C
NM_001173991.3:c.230-163A>C	NP_001167462.1:n.230-163A>C
NM_001330285.2:c.47-163A>C	NP_001317214.1:n.47-163A>C
NM_016499.6:c.47-163A>C	NP_057583.2:n.47-163A>C