Canonical Allele Identifier: CA599502980

Gene: TMEM216

Linked Data

• dbSNP Id: rs1387747997
• gnomAD v2: 11-61160083-C-G
• gnomAD v3: 11-61392611-C-G
• gnomAD v4: 11-61392611-C-G
• MyVariant Identifiers: chr11:g.61160083C>G (hg19) ; chr11:g.61392611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392611C>G , CM000673.2:g.61392611C>G	GRCh38
NC_000011.9:g.61160083C>G , CM000673.1:g.61160083C>G	GRCh37
NC_000011.8:g.60916659C>G	NCBI36
NG_032976.1:g.5252C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.-21C>G	ENSP00000334844.5:n.-21C>G
ENST00000544795.6:n.25C>G
ENST00000690736.1:c.-21C>G	ENSP00000508542.1:n.-21C>G
ENST00000515837.7:c.-21C>G MANE Select	ENSP00000440638.1:n.-21C>G
ENST00000334888.9:c.-21C>G	ENSP00000334844.5:n.-21C>G
ENST00000398979.7:c.-218C>G	ENSP00000381950.3:n.-218C>G
ENST00000515837.6:c.-21C>G	ENSP00000440638.1:n.-21C>G
NM_001173990.2:c.-21C>G	NP_001167461.1:n.-21C>G
NM_001173991.2:c.-21C>G	NP_001167462.1:n.-21C>G
NM_016499.5:c.-218C>G	NP_057583.2:n.-218C>G
XM_005274039.3:c.-352C>G	XP_005274096.1:n.-352C>G
NM_001330285.1:c.-218C>G	NP_001317214.1:n.-218C>G
XM_005274039.4:c.-352C>G	XP_005274096.1:n.-352C>G
NM_001173990.3:c.-21C>G MANE Select	NP_001167461.1:n.-21C>G
NM_001173991.3:c.-21C>G	NP_001167462.1:n.-21C>G
NM_001330285.2:c.-218C>G	NP_001317214.1:n.-218C>G
NM_016499.6:c.-218C>G	NP_057583.2:n.-218C>G