Canonical Allele Identifier: CA2700003839
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs2104287022

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254855dup , CM000664.2:g.96254855dup GRCh38
NC_000002.11:g.96920593dup , CM000664.1:g.96920593dup GRCh37
NC_000002.10:g.96284320dup NCBI36
NG_027695.1:g.16159dup , LRG_528:g.16159dup

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.387dup MANE Select ENSP00000258439.3:p.Ala130CysfsTer23
ENST00000258439.7:c.387dup ENSP00000258439.2:p.Ala130CysfsTer23
ENST00000432959.1:c.387dup ENSP00000416660.1:p.Ala130CysfsTer23
ENST00000435268.1:c.135dup ENSP00000411810.1:p.Ala46CysfsTer23
NM_001193304.2:c.387dup NP_001180233.1:p.Ala130CysfsTer23
NM_017849.3:c.387dup , LRG_528t1:c.387dup NP_060319.1:p.Ala130CysfsTer23
XM_017004450.1:c.-532dup XP_016859939.1:n.-532dup
XM_017004452.1:c.135dup XP_016859941.1:p.Ala46CysfsTer23
NM_001193304.3:c.387dup NP_001180233.1:p.Ala130CysfsTer23
NM_017849.4:c.387dup MANE Select NP_060319.1:p.Ala130CysfsTer23