Canonical Allele Identifier: CA10635095

Gene: TMEM216

Linked Data

• ClinVar Variation Id: 305073
• ClinVar RCV Id: RCV000309701 ; RCV000359657
• dbSNP Id: rs183785901
• gnomAD v2: 11-61159969-T-C
• gnomAD v3: 11-61392497-T-C
• gnomAD v4: 11-61392497-T-C
• MyVariant Identifiers: chr11:g.61159969T>C (hg19) ; chr11:g.61392497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392497T>C , CM000673.2:g.61392497T>C	GRCh38
NC_000011.9:g.61159969T>C , CM000673.1:g.61159969T>C	GRCh37
NC_000011.8:g.60916545T>C	NCBI36
NG_032976.1:g.5138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.9:c.-135T>C	ENSP00000334844.5:n.-135T>C
ENST00000398979.7:c.-332T>C	ENSP00000381950.3:n.-332T>C
ENST00000515837.6:c.-135T>C	ENSP00000440638.1:n.-135T>C
NM_001173990.2:c.-135T>C	NP_001167461.1:n.-135T>C
NM_001173991.2:c.-135T>C	NP_001167462.1:n.-135T>C
NM_016499.5:c.-332T>C	NP_057583.2:n.-332T>C
XM_005274039.3:c.-466T>C	XP_005274096.1:n.-466T>C
NM_001330285.1:c.-332T>C	NP_001317214.1:n.-332T>C
XM_005274039.4:c.-466T>C	XP_005274096.1:n.-466T>C