Canonical Allele Identifier: CA427496279
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 2186684
ClinVar RCV Id: RCV002623335
gnomAD v4: 2-96265166-C-T
MyVariant Identifiers: chr2:g.96930904C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265166C>T , CM000664.2:g.96265166C>T GRCh38
NC_000002.11:g.96930904C>T , CM000664.1:g.96930904C>T GRCh37
NC_000002.10:g.96294631C>T NCBI36
NG_027695.1:g.5848G>A , LRG_528:g.5848G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.216G>A MANE Select ENSP00000258439.3:p.Leu72=
ENST00000258439.7:c.216G>A ENSP00000258439.2:p.Leu72=
ENST00000432959.1:c.216G>A ENSP00000416660.1:p.Leu72=
NM_001193304.2:c.216G>A NP_001180233.1:p.Leu72=
NM_017849.3:c.216G>A , LRG_528t1:c.216G>A NP_060319.1:p.Leu72=
NM_001193304.3:c.216G>A NP_001180233.1:p.Leu72=
NM_017849.4:c.216G>A MANE Select NP_060319.1:p.Leu72=
Search 100 bp 5'
Search 100 bp 3'