Canonical Allele Identifier: CA678971529

Gene: TMEM216

Linked Data

• dbSNP Id: rs527569572
• gnomAD v3: 11-61392476-G-A
• gnomAD v4: 11-61392476-G-A
• MyVariant Identifiers: chr11:g.61159948G>A (hg19) ; chr11:g.61392476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392476G>A , CM000673.2:g.61392476G>A	GRCh38
NC_000011.9:g.61159948G>A , CM000673.1:g.61159948G>A	GRCh37
NC_000011.8:g.60916524G>A	NCBI36
NG_032976.1:g.5117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.9:c.-156G>A	ENSP00000334844.5:n.-156G>A
ENST00000398979.7:c.-353G>A	ENSP00000381950.3:n.-353G>A
ENST00000515837.6:c.-156G>A	ENSP00000440638.1:n.-156G>A
NM_001173990.2:c.-156G>A	NP_001167461.1:n.-156G>A
NM_001173991.2:c.-156G>A	NP_001167462.1:n.-156G>A
NM_016499.5:c.-353G>A	NP_057583.2:n.-353G>A
XM_005274039.3:c.-487G>A	XP_005274096.1:n.-487G>A
NM_001330285.1:c.-353G>A	NP_001317214.1:n.-353G>A
XM_005274039.4:c.-487G>A	XP_005274096.1:n.-487G>A