Canonical Allele Identifier: CA8370844

Gene: TMEM107 SNORD118

Linked Data

• ClinVar Variation Id: 522851
• ClinVar RCV Id: RCV000626026 ; RCV001815353
• dbSNP Id: rs117735243
• ExAC: 17:8076904 G / A
• gnomAD v2: 17-8076904-G-A
• gnomAD v3: 17-8173586-G-A
• gnomAD v4: 17-8173586-G-A
• MyVariant Identifiers: chr17:g.8076904G>A (hg19) ; chr17:g.8173586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8173586G>A , CM000679.2:g.8173586G>A	GRCh38
NC_000017.10:g.8076904G>A , CM000679.1:g.8076904G>A	GRCh37
NC_000017.9:g.8017629G>A	NCBI36
NG_054916.1:g.7826C>T
NG_056674.1:g.5003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000437139.7:c.*617C>T (TMEM107) MANE Select	ENSP00000402732.2:n.*617C>T
ENST00000449985.6:c.*666C>T (TMEM107)	ENSP00000404753.2:n.*666C>T
NM_032354.3:c.*617C>T (TMEM107)	NP_115730.2:n.*617C>T
NM_183065.2:c.*617C>T (TMEM107)	NP_898888.1:n.*617C>T
NR_033294.1:n.3C>T (SNORD118)
NM_001351278.1:c.*617C>T (TMEM107)	NP_001338207.1:n.*617C>T
NM_001351279.1:c.*617C>T (TMEM107)	NP_001338208.1:n.*617C>T
NM_001351280.1:c.*617C>T (TMEM107)	NP_001338209.1:n.*617C>T
NM_032354.4:c.*617C>T (TMEM107)	NP_115730.2:n.*617C>T
NM_183065.3:c.*617C>T (TMEM107)	NP_898888.1:n.*617C>T
NR_147092.1:n.899C>T (TMEM107)
NM_001351278.2:c.*617C>T (TMEM107)	NP_001338207.1:n.*617C>T
NM_001351279.2:c.*617C>T (TMEM107)	NP_001338208.1:n.*617C>T
NM_001351280.2:c.*617C>T (TMEM107)	NP_001338209.1:n.*617C>T
NM_032354.5:c.*617C>T (TMEM107)	NP_115730.2:n.*617C>T
NM_183065.4:c.*617C>T (TMEM107) MANE Select	NP_898888.1:n.*617C>T
NR_147092.2:n.868C>T (TMEM107)
NR_033294.2:n.3C>T (SNORD118)