Canonical Allele Identifier: CA1139655612
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 895801
ClinVar RCV Id: RCV001138108
dbSNP Id: rs1684078512

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251124G>C , CM000664.2:g.96251124G>C GRCh38
NC_000002.11:g.96916862G>C , CM000664.1:g.96916862G>C GRCh37
NC_000002.10:g.96280589G>C NCBI36
NG_027695.1:g.19890C>G , LRG_528:g.19890C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.*2684C>G MANE Select ENSP00000258439.3:n.*2684C>G
ENST00000258439.7:c.*2684C>G ENSP00000258439.2:n.*2684C>G
NM_001193304.2:c.*2684C>G NP_001180233.1:n.*2684C>G
NM_017849.3:c.*2684C>G , LRG_528t1:c.*2684C>G NP_060319.1:n.*2684C>G
XM_017004450.1:c.*1985C>G XP_016859939.1:n.*1985C>G
XM_017004452.1:c.*2684C>G XP_016859941.1:n.*2684C>G
NM_001193304.3:c.*2684C>G NP_001180233.1:n.*2684C>G
NM_017849.4:c.*2684C>G MANE Select NP_060319.1:n.*2684C>G