Canonical Allele Identifier: CA2613836540

Gene: TMEM216

Linked Data

• gnomAD v4: 11-61392696-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392696T>C , CM000673.2:g.61392696T>C	GRCh38
NC_000011.9:g.61160168T>C , CM000673.1:g.61160168T>C	GRCh37
NC_000011.8:g.60916744T>C	NCBI36
NG_032976.1:g.5337T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334888.10:c.34+31T>C	ENSP00000334844.5:n.34+31T>C
ENST00000544795.6:n.110T>C
ENST00000684926.1:n.50+17T>C
ENST00000688959.1:c.-226+17T>C	ENSP00000509213.1:n.-226+17T>C
ENST00000690736.1:c.34+31T>C	ENSP00000508542.1:n.34+31T>C
ENST00000515837.7:c.34+31T>C MANE Select	ENSP00000440638.1:n.34+31T>C
ENST00000334888.9:c.34+31T>C	ENSP00000334844.5:n.34+31T>C
ENST00000398979.7:c.-150+17T>C	ENSP00000381950.3:n.-150+17T>C
ENST00000515837.6:c.34+31T>C	ENSP00000440638.1:n.34+31T>C
ENST00000541473.1:n.48+17T>C
ENST00000544795.5:n.50+17T>C
NM_001173990.2:c.34+31T>C	NP_001167461.1:n.34+31T>C
NM_001173991.2:c.34+31T>C	NP_001167462.1:n.34+31T>C
NM_016499.5:c.-150+17T>C	NP_057583.2:n.-150+17T>C
XM_005274039.3:c.-284+17T>C	XP_005274096.1:n.-284+17T>C
NM_001330285.1:c.-150+17T>C	NP_001317214.1:n.-150+17T>C
XM_005274039.4:c.-284+17T>C	XP_005274096.1:n.-284+17T>C
NM_001173990.3:c.34+31T>C MANE Select	NP_001167461.1:n.34+31T>C
NM_001173991.3:c.34+31T>C	NP_001167462.1:n.34+31T>C
NM_001330285.2:c.-150+17T>C	NP_001317214.1:n.-150+17T>C
NM_016499.6:c.-150+17T>C	NP_057583.2:n.-150+17T>C