Canonical Allele Identifier: CA1272521213

Gene: TMEM127

Linked Data

• dbSNP Id: rs1023130399
• gnomAD v4: 2-96251826-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251826G>A , CM000664.2:g.96251826G>A	GRCh38
NC_000002.11:g.96917564G>A , CM000664.1:g.96917564G>A	GRCh37
NC_000002.10:g.96281291G>A	NCBI36
NG_027695.1:g.19188C>T , LRG_528:g.19188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*1982C>T MANE Select	ENSP00000258439.3:n.*1982C>T
ENST00000258439.7:c.*1982C>T	ENSP00000258439.2:n.*1982C>T
ENST00000432959.1:c.*1982C>T	ENSP00000416660.1:n.*1982C>T
NM_001193304.2:c.*1982C>T	NP_001180233.1:n.*1982C>T
NM_017849.3:c.*1982C>T , LRG_528t1:c.*1982C>T	NP_060319.1:n.*1982C>T
XM_017004450.1:c.*1283C>T	XP_016859939.1:n.*1283C>T
XM_017004452.1:c.*1982C>T	XP_016859941.1:n.*1982C>T
NM_001193304.3:c.*1982C>T	NP_001180233.1:n.*1982C>T
NM_017849.4:c.*1982C>T MANE Select	NP_060319.1:n.*1982C>T