Canonical Allele Identifier: CA222894273

Gene: TMEM216

Linked Data

• dbSNP Id: rs915426166
• gnomAD v3: 11-61392525-C-T
• gnomAD v4: 11-61392525-C-T
• MyVariant Identifiers: chr11:g.61159997C>T (hg19) ; chr11:g.61392525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392525C>T , CM000673.2:g.61392525C>T	GRCh38
NC_000011.9:g.61159997C>T , CM000673.1:g.61159997C>T	GRCh37
NC_000011.8:g.60916573C>T	NCBI36
NG_032976.1:g.5166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.9:c.-107C>T	ENSP00000334844.5:n.-107C>T
ENST00000398979.7:c.-304C>T	ENSP00000381950.3:n.-304C>T
ENST00000515837.6:c.-107C>T	ENSP00000440638.1:n.-107C>T
NM_001173990.2:c.-107C>T	NP_001167461.1:n.-107C>T
NM_001173991.2:c.-107C>T	NP_001167462.1:n.-107C>T
NM_016499.5:c.-304C>T	NP_057583.2:n.-304C>T
XM_005274039.3:c.-438C>T	XP_005274096.1:n.-438C>T
NM_001330285.1:c.-304C>T	NP_001317214.1:n.-304C>T
XM_005274039.4:c.-438C>T	XP_005274096.1:n.-438C>T