Canonical Allele Identifier: CA082736

Gene: TMEM199

Linked Data

• ClinVar Variation Id: 218964
• ClinVar RCV Id: RCV000208697 ; RCV000210790 ; RCV002517364 ; RCV003407721
• dbSNP Id: rs782531869
• ExAC: 17:26684785 G / C
• gnomAD v2: 17-26684785-G-C
• gnomAD v3: 17-28357762-G-C
• gnomAD v4: 17-28357762-G-C
• MyVariant Identifiers: chr17:g.26684785G>C (hg19) ; chr17:g.28357762G>C (hg38)
• PubMed: PMID:26833330

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28357762G>C , CM000679.2:g.28357762G>C	GRCh38
NC_000017.10:g.26684785G>C , CM000679.1:g.26684785G>C	GRCh37
NC_000017.9:g.23708912G>C	NCBI36
NG_046803.1:g.5182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292114.8:c.92G>C MANE Select	ENSP00000292114.3:p.Arg31Pro
ENST00000292114.7:c.92G>C	ENSP00000292114.3:p.Arg31Pro
ENST00000483505.6:n.55G>C
ENST00000555264.6:c.92G>C	ENSP00000462356.1:p.Arg31Pro
ENST00000579762.1:n.111G>C
ENST00000580868.5:c.92G>C	ENSP00000462195.1:p.Arg31Pro
ENST00000581386.5:n.106G>C
NM_152464.2:c.92G>C	NP_689677.1:p.Arg31Pro
NM_152464.3:c.92G>C MANE Select	NP_689677.1:p.Arg31Pro