Canonical Allele Identifier: CA1777401
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 1977801
ClinVar RCV Id: RCV002736802
dbSNP Id: rs776127077
ExAC: 2:96931038 C / A
gnomAD v4: 2-96265300-C-A
MyVariant Identifiers: chr2:g.96931038C>A (hg19) chr2:g.96265300C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265300C>A , CM000664.2:g.96265300C>A GRCh38
NC_000002.11:g.96931038C>A , CM000664.1:g.96931038C>A GRCh37
NC_000002.10:g.96294765C>A NCBI36
NG_027695.1:g.5714G>T , LRG_528:g.5714G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.82G>T MANE Select ENSP00000258439.3:p.Glu28Ter
ENST00000258439.7:c.82G>T ENSP00000258439.2:p.Glu28Ter
ENST00000432959.1:c.82G>T ENSP00000416660.1:p.Glu28Ter
NM_001193304.2:c.82G>T NP_001180233.1:p.Glu28Ter
NM_017849.3:c.82G>T , LRG_528t1:c.82G>T NP_060319.1:p.Glu28Ter
NM_001193304.3:c.82G>T NP_001180233.1:p.Glu28Ter
NM_017849.4:c.82G>T MANE Select NP_060319.1:p.Glu28Ter
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Search 100 bp 3'