Canonical Allele Identifier: CA2660175827
Gene: TMEM127 HGNC NCBI

Linked Data

gnomAD v4: 2-96252446-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96252446A>G , CM000664.2:g.96252446A>G GRCh38
NC_000002.11:g.96918184A>G , CM000664.1:g.96918184A>G GRCh37
NC_000002.10:g.96281911A>G NCBI36
NG_027695.1:g.18568T>C , LRG_528:g.18568T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*1362T>C MANE Select ENSP00000258439.3:n.*1362T>C
ENST00000258439.7:c.*1362T>C ENSP00000258439.2:n.*1362T>C
ENST00000432959.1:c.*1362T>C ENSP00000416660.1:n.*1362T>C
NM_001193304.2:c.*1362T>C NP_001180233.1:n.*1362T>C
NM_017849.3:c.*1362T>C , LRG_528t1:c.*1362T>C NP_060319.1:n.*1362T>C
XM_017004450.1:c.*663T>C XP_016859939.1:n.*663T>C
XM_017004452.1:c.*1362T>C XP_016859941.1:n.*1362T>C
NM_001193304.3:c.*1362T>C NP_001180233.1:n.*1362T>C
NM_017849.4:c.*1362T>C MANE Select NP_060319.1:n.*1362T>C