Canonical Allele Identifier: CA52376114
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs887312530
gnomAD v4: 2-96265904-C-T
MyVariant Identifiers: chr2:g.96265904C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265904C>T , CM000664.2:g.96265904C>T GRCh38
NC_000002.11:g.96931642C>T , CM000664.1:g.96931642C>T GRCh37
NC_000002.10:g.96295369C>T NCBI36
NG_027695.1:g.5110G>A , LRG_528:g.5110G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.-167G>A MANE Select ENSP00000258439.3:n.-167G>A
ENST00000258439.7:c.-167G>A ENSP00000258439.2:n.-167G>A
ENST00000432959.1:c.-144G>A ENSP00000416660.1:n.-144G>A
NM_001193304.2:c.-144G>A NP_001180233.1:n.-144G>A
NM_017849.3:c.-167G>A , LRG_528t1:c.-167G>A NP_060319.1:n.-167G>A
NM_001193304.3:c.-144G>A NP_001180233.1:n.-144G>A
NM_017849.4:c.-167G>A MANE Select NP_060319.1:n.-167G>A
Search 100 bp 5'
Search 100 bp 3'