Canonical Allele Identifier: CA678971525

Gene: TMEM216

Linked Data

• dbSNP Id: rs1463912642
• gnomAD v4: 11-61392409-C-T
• MyVariant Identifiers: chr11:g.61159881C>T (hg19) ; chr11:g.61392409C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392409C>T , CM000673.2:g.61392409C>T	GRCh38
NC_000011.9:g.61159881C>T , CM000673.1:g.61159881C>T	GRCh37
NC_000011.8:g.60916457C>T	NCBI36
NG_032976.1:g.5050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.9:c.-223C>T	ENSP00000334844.5:n.-223C>T
ENST00000398979.7:c.-420C>T	ENSP00000381950.3:n.-420C>T
ENST00000515837.6:c.-223C>T	ENSP00000440638.1:n.-223C>T
NM_001173990.2:c.-223C>T	NP_001167461.1:n.-223C>T
NM_001173991.2:c.-223C>T	NP_001167462.1:n.-223C>T
NM_016499.5:c.-420C>T	NP_057583.2:n.-420C>T
XM_005274039.3:c.-554C>T	XP_005274096.1:n.-554C>T
NM_001330285.1:c.-420C>T	NP_001317214.1:n.-420C>T
XM_005274039.4:c.-554C>T	XP_005274096.1:n.-554C>T