Canonical Allele Identifier: CA938604014

Gene: TMEM216

Linked Data

• dbSNP Id: rs1858691499
• gnomAD v3: 11-61392415-T-C
• gnomAD v4: 11-61392415-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392415T>C , CM000673.2:g.61392415T>C	GRCh38
NC_000011.9:g.61159887T>C , CM000673.1:g.61159887T>C	GRCh37
NC_000011.8:g.60916463T>C	NCBI36
NG_032976.1:g.5056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.9:c.-217T>C	ENSP00000334844.5:n.-217T>C
ENST00000398979.7:c.-414T>C	ENSP00000381950.3:n.-414T>C
ENST00000515837.6:c.-217T>C	ENSP00000440638.1:n.-217T>C
NM_001173990.2:c.-217T>C	NP_001167461.1:n.-217T>C
NM_001173991.2:c.-217T>C	NP_001167462.1:n.-217T>C
NM_016499.5:c.-414T>C	NP_057583.2:n.-414T>C
XM_005274039.3:c.-548T>C	XP_005274096.1:n.-548T>C
NM_001330285.1:c.-414T>C	NP_001317214.1:n.-414T>C
XM_005274039.4:c.-548T>C	XP_005274096.1:n.-548T>C