Canonical Allele Identifier: CA2660175501
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96251847-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251847C>G , CM000664.2:g.96251847C>G GRCh38
NC_000002.11:g.96917585C>G , CM000664.1:g.96917585C>G GRCh37
NC_000002.10:g.96281312C>G NCBI36
NG_027695.1:g.19167G>C , LRG_528:g.19167G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*1961G>C MANE Select ENSP00000258439.3:n.*1961G>C
ENST00000258439.7:c.*1961G>C ENSP00000258439.2:n.*1961G>C
ENST00000432959.1:c.*1961G>C ENSP00000416660.1:n.*1961G>C
NM_001193304.2:c.*1961G>C NP_001180233.1:n.*1961G>C
NM_017849.3:c.*1961G>C , LRG_528t1:c.*1961G>C NP_060319.1:n.*1961G>C
XM_017004450.1:c.*1262G>C XP_016859939.1:n.*1262G>C
XM_017004452.1:c.*1961G>C XP_016859941.1:n.*1961G>C
NM_001193304.3:c.*1961G>C NP_001180233.1:n.*1961G>C
NM_017849.4:c.*1961G>C MANE Select NP_060319.1:n.*1961G>C