Canonical Allele Identifier: CA222894206

Gene: TMEM216

Linked Data

• dbSNP Id: rs977526513
• gnomAD v4: 11-61392460-T-C
• MyVariant Identifiers: chr11:g.61159932T>C (hg19) ; chr11:g.61392460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61392460T>C , CM000673.2:g.61392460T>C	GRCh38
NC_000011.9:g.61159932T>C , CM000673.1:g.61159932T>C	GRCh37
NC_000011.8:g.60916508T>C	NCBI36
NG_032976.1:g.5101T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334888.9:c.-172T>C	ENSP00000334844.5:n.-172T>C
ENST00000398979.7:c.-369T>C	ENSP00000381950.3:n.-369T>C
ENST00000515837.6:c.-172T>C	ENSP00000440638.1:n.-172T>C
NM_001173990.2:c.-172T>C	NP_001167461.1:n.-172T>C
NM_001173991.2:c.-172T>C	NP_001167462.1:n.-172T>C
NM_016499.5:c.-369T>C	NP_057583.2:n.-369T>C
XM_005274039.3:c.-503T>C	XP_005274096.1:n.-503T>C
NM_001330285.1:c.-369T>C	NP_001317214.1:n.-369T>C
XM_005274039.4:c.-503T>C	XP_005274096.1:n.-503T>C