Canonical Allele Identifier: CA1777386

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 646591
• ClinVar RCV Id: RCV000800910 ; RCV001012880 ; RCV003478500 ; RCV003461124
• dbSNP Id: rs764136807
• ExAC: 2:96930948 C / T
• gnomAD v2: 2-96930948-C-T
• gnomAD v3: 2-96265210-C-T
• gnomAD v4: 2-96265210-C-T
• MyVariant Identifiers: chr2:g.96930948C>T (hg19) ; chr2:g.96265210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96265210C>T , CM000664.2:g.96265210C>T	GRCh38
NC_000002.11:g.96930948C>T , CM000664.1:g.96930948C>T	GRCh37
NC_000002.10:g.96294675C>T	NCBI36
NG_027695.1:g.5804G>A , LRG_528:g.5804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.172G>A MANE Select	ENSP00000258439.3:p.Gly58Arg
ENST00000258439.7:c.172G>A	ENSP00000258439.2:p.Gly58Arg
ENST00000432959.1:c.172G>A	ENSP00000416660.1:p.Gly58Arg
NM_001193304.2:c.172G>A	NP_001180233.1:p.Gly58Arg
NM_017849.3:c.172G>A , LRG_528t1:c.172G>A	NP_060319.1:p.Gly58Arg
NM_001193304.3:c.172G>A	NP_001180233.1:p.Gly58Arg
NM_017849.4:c.172G>A MANE Select	NP_060319.1:p.Gly58Arg