Canonical Allele Identifier: CA599502964

Gene: TMEM216

Linked Data

• dbSNP Id: rs1406025516
• gnomAD v2: 11-61160069-G-C
• gnomAD v3: 11-61392597-G-C
• gnomAD v4: 11-61392597-G-C
• MyVariant Identifiers: chr11:g.61160069G>C (hg19) ; chr11:g.61392597G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392597G>C , CM000673.2:g.61392597G>C	GRCh38
NC_000011.9:g.61160069G>C , CM000673.1:g.61160069G>C	GRCh37
NC_000011.8:g.60916645G>C	NCBI36
NG_032976.1:g.5238G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.10:c.-35G>C	ENSP00000334844.5:n.-35G>C
ENST00000544795.6:n.11G>C
ENST00000690736.1:c.-35G>C	ENSP00000508542.1:n.-35G>C
ENST00000515837.7:c.-35G>C MANE Select	ENSP00000440638.1:n.-35G>C
ENST00000334888.9:c.-35G>C	ENSP00000334844.5:n.-35G>C
ENST00000398979.7:c.-232G>C	ENSP00000381950.3:n.-232G>C
ENST00000515837.6:c.-35G>C	ENSP00000440638.1:n.-35G>C
NM_001173990.2:c.-35G>C	NP_001167461.1:n.-35G>C
NM_001173991.2:c.-35G>C	NP_001167462.1:n.-35G>C
NM_016499.5:c.-232G>C	NP_057583.2:n.-232G>C
XM_005274039.3:c.-366G>C	XP_005274096.1:n.-366G>C
NM_001330285.1:c.-232G>C	NP_001317214.1:n.-232G>C
XM_005274039.4:c.-366G>C	XP_005274096.1:n.-366G>C
NM_001173990.3:c.-35G>C MANE Select	NP_001167461.1:n.-35G>C
NM_001173991.3:c.-35G>C	NP_001167462.1:n.-35G>C
NM_001330285.2:c.-232G>C	NP_001317214.1:n.-232G>C
NM_016499.6:c.-232G>C	NP_057583.2:n.-232G>C