Canonical Allele Identifier: CA914439865

Gene: TMEM127

Linked Data

• dbSNP Id: rs1558750550
• gnomAD v2: 2-96917324-G-A
• gnomAD v3: 2-96251586-G-A
• gnomAD v4: 2-96251586-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251586G>A , CM000664.2:g.96251586G>A	GRCh38
NC_000002.11:g.96917324G>A , CM000664.1:g.96917324G>A	GRCh37
NC_000002.10:g.96281051G>A	NCBI36
NG_027695.1:g.19428C>T , LRG_528:g.19428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2222C>T MANE Select	ENSP00000258439.3:n.*2222C>T
ENST00000258439.7:c.*2222C>T	ENSP00000258439.2:n.*2222C>T
NM_001193304.2:c.*2222C>T	NP_001180233.1:n.*2222C>T
NM_017849.3:c.*2222C>T , LRG_528t1:c.*2222C>T	NP_060319.1:n.*2222C>T
XM_017004450.1:c.*1523C>T	XP_016859939.1:n.*1523C>T
XM_017004452.1:c.*2222C>T	XP_016859941.1:n.*2222C>T
NM_001193304.3:c.*2222C>T	NP_001180233.1:n.*2222C>T
NM_017849.4:c.*2222C>T MANE Select	NP_060319.1:n.*2222C>T