Canonical Allele Identifier: CA2597626198

Gene: TMEM216

Linked Data

• dbSNP Id: rs557559653
• gnomAD v3: 11-61392541-G-T
• gnomAD v4: 11-61392541-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392541G>T , CM000673.2:g.61392541G>T	GRCh38
NC_000011.9:g.61160013G>T , CM000673.1:g.61160013G>T	GRCh37
NC_000011.8:g.60916589G>T	NCBI36
NG_032976.1:g.5182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.9:c.-91G>T	ENSP00000334844.5:n.-91G>T
ENST00000398979.7:c.-288G>T	ENSP00000381950.3:n.-288G>T
ENST00000515837.6:c.-91G>T	ENSP00000440638.1:n.-91G>T
NM_001173990.2:c.-91G>T	NP_001167461.1:n.-91G>T
NM_001173991.2:c.-91G>T	NP_001167462.1:n.-91G>T
NM_016499.5:c.-288G>T	NP_057583.2:n.-288G>T
XM_005274039.3:c.-422G>T	XP_005274096.1:n.-422G>T
NM_001330285.1:c.-288G>T	NP_001317214.1:n.-288G>T
XM_005274039.4:c.-422G>T	XP_005274096.1:n.-422G>T