Canonical Allele Identifier: CA8370835
Community Standard Title: NM_183065.4(TMEM107):c.*622G>A
Gene: TMEM107 HGNC NCBI
SNORD118 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8173581C>T , CM000679.2:g.8173581C>T GRCh38
NC_000017.10:g.8076899C>T , CM000679.1:g.8076899C>T GRCh37
NC_000017.9:g.8017624C>T NCBI36
NG_054916.1:g.7831G>A
NG_056674.1:g.5008G>A

Transcript Alleles

HGVS Amino-acid Change
NM_183065.4:c.*622G>A (TMEM107) MANE Select NP_898888.1:n.*622G>A
ENST00000437139.7:c.*622G>A (TMEM107) MANE Select ENSP00000402732.2:n.*622G>A
NM_001351278.1:c.*622G>A (TMEM107) NP_001338207.1:n.*622G>A
NM_001351278.2:c.*622G>A (TMEM107) NP_001338207.1:n.*622G>A
NM_001351279.1:c.*622G>A (TMEM107) NP_001338208.1:n.*622G>A
NM_001351279.2:c.*622G>A (TMEM107) NP_001338208.1:n.*622G>A
NM_001351280.1:c.*622G>A (TMEM107) NP_001338209.1:n.*622G>A
NM_001351280.2:c.*622G>A (TMEM107) NP_001338209.1:n.*622G>A
NM_032354.3:c.*622G>A (TMEM107) NP_115730.2:n.*622G>A
NM_032354.4:c.*622G>A (TMEM107) NP_115730.2:n.*622G>A
NM_032354.5:c.*622G>A (TMEM107) NP_115730.2:n.*622G>A
NM_183065.2:c.*622G>A (TMEM107) NP_898888.1:n.*622G>A
NM_183065.3:c.*622G>A (TMEM107) NP_898888.1:n.*622G>A
NR_033294.1:n.8G>A (SNORD118)
NR_033294.2:n.8G>A (SNORD118)
NR_147092.1:n.904G>A (TMEM107)
NR_147092.2:n.873G>A (TMEM107)
ENST00000449985.6:c.*671G>A (TMEM107) ENSP00000404753.2:n.*671G>A