Canonical Allele Identifier: CA1977295922

Gene: TMEM216

Linked Data

• dbSNP Id: rs1858702316
• gnomAD v4: 11-61392746-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392746A>C , CM000673.2:g.61392746A>C	GRCh38
NC_000011.9:g.61160218A>C , CM000673.1:g.61160218A>C	GRCh37
NC_000011.8:g.60916794A>C	NCBI36
NG_032976.1:g.5387A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.34+81A>C	ENSP00000334844.5:n.34+81A>C
ENST00000544795.6:n.160A>C
ENST00000684926.1:n.50+67A>C
ENST00000688959.1:c.-226+67A>C	ENSP00000509213.1:n.-226+67A>C
ENST00000690736.1:c.34+81A>C	ENSP00000508542.1:n.34+81A>C
ENST00000515837.7:c.34+81A>C MANE Select	ENSP00000440638.1:n.34+81A>C
ENST00000334888.9:c.34+81A>C	ENSP00000334844.5:n.34+81A>C
ENST00000398979.7:c.-150+67A>C	ENSP00000381950.3:n.-150+67A>C
ENST00000515837.6:c.34+81A>C	ENSP00000440638.1:n.34+81A>C
ENST00000541473.1:n.48+67A>C
ENST00000544795.5:n.50+67A>C
NM_001173990.2:c.34+81A>C	NP_001167461.1:n.34+81A>C
NM_001173991.2:c.34+81A>C	NP_001167462.1:n.34+81A>C
NM_016499.5:c.-150+67A>C	NP_057583.2:n.-150+67A>C
XM_005274039.3:c.-283-18A>C	XP_005274096.1:n.-283-18A>C
NM_001330285.1:c.-150+67A>C	NP_001317214.1:n.-150+67A>C
XM_005274039.4:c.-283-18A>C	XP_005274096.1:n.-283-18A>C
NM_001173990.3:c.34+81A>C MANE Select	NP_001167461.1:n.34+81A>C
NM_001173991.3:c.34+81A>C	NP_001167462.1:n.34+81A>C
NM_001330285.2:c.-150+67A>C	NP_001317214.1:n.-150+67A>C
NM_016499.6:c.-150+67A>C	NP_057583.2:n.-150+67A>C