Canonical Allele Identifier: CA1033957247

Gene: TMEM127

Linked Data

• dbSNP Id: rs992231489
• gnomAD v3: 2-96251660-T-C
• gnomAD v4: 2-96251660-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251660T>C , CM000664.2:g.96251660T>C	GRCh38
NC_000002.11:g.96917398T>C , CM000664.1:g.96917398T>C	GRCh37
NC_000002.10:g.96281125T>C	NCBI36
NG_027695.1:g.19354A>G , LRG_528:g.19354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2148A>G MANE Select	ENSP00000258439.3:n.*2148A>G
ENST00000258439.7:c.*2148A>G	ENSP00000258439.2:n.*2148A>G
ENST00000432959.1:c.*2148A>G	ENSP00000416660.1:n.*2148A>G
NM_001193304.2:c.*2148A>G	NP_001180233.1:n.*2148A>G
NM_017849.3:c.*2148A>G , LRG_528t1:c.*2148A>G	NP_060319.1:n.*2148A>G
XM_017004450.1:c.*1449A>G	XP_016859939.1:n.*1449A>G
XM_017004452.1:c.*2148A>G	XP_016859941.1:n.*2148A>G
NM_001193304.3:c.*2148A>G	NP_001180233.1:n.*2148A>G
NM_017849.4:c.*2148A>G MANE Select	NP_060319.1:n.*2148A>G