Canonical Allele Identifier: CA52376084
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs1018439686
gnomAD v2: 2-96931629-G-A
gnomAD v3: 2-96265891-G-A
gnomAD v4: 2-96265891-G-A
MyVariant Identifiers: chr2:g.96931629G>A (hg19) chr2:g.96265891G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265891G>A , CM000664.2:g.96265891G>A GRCh38
NC_000002.11:g.96931629G>A , CM000664.1:g.96931629G>A GRCh37
NC_000002.10:g.96295356G>A NCBI36
NG_027695.1:g.5123C>T , LRG_528:g.5123C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.-154C>T MANE Select ENSP00000258439.3:n.-154C>T
ENST00000258439.7:c.-154C>T ENSP00000258439.2:n.-154C>T
ENST00000432959.1:c.-131C>T ENSP00000416660.1:n.-131C>T
NM_001193304.2:c.-131C>T NP_001180233.1:n.-131C>T
NM_017849.3:c.-154C>T , LRG_528t1:c.-154C>T NP_060319.1:n.-154C>T
NM_001193304.3:c.-131C>T NP_001180233.1:n.-131C>T
NM_017849.4:c.-154C>T MANE Select NP_060319.1:n.-154C>T
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