Canonical Allele Identifier: CA1777309
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 1629941
ClinVar RCV Id: RCV002118694
dbSNP Id: rs369750335
gnomAD v2: 2-96919870-C-T
gnomAD v3: 2-96254132-C-T
gnomAD v4: 2-96254132-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254132C>T , CM000664.2:g.96254132C>T GRCh38
NC_000002.11:g.96919870C>T , CM000664.1:g.96919870C>T GRCh37
NC_000002.10:g.96283597C>T NCBI36
NG_027695.1:g.16882G>A , LRG_528:g.16882G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.410-17G>A MANE Select ENSP00000258439.3:n.410-17G>A
ENST00000258439.7:c.410-17G>A ENSP00000258439.2:n.410-17G>A
ENST00000432959.1:c.410-17G>A ENSP00000416660.1:n.410-17G>A
ENST00000435268.1:c.158-17G>A ENSP00000411810.1:n.158-17G>A
NM_001193304.2:c.410-17G>A NP_001180233.1:n.410-17G>A
NM_017849.3:c.410-17G>A , LRG_528t1:c.410-17G>A NP_060319.1:n.410-17G>A
XM_017004450.1:c.-509-17G>A XP_016859939.1:n.-509-17G>A
XM_017004452.1:c.158-17G>A XP_016859941.1:n.158-17G>A
NM_001193304.3:c.410-17G>A NP_001180233.1:n.410-17G>A
NM_017849.4:c.410-17G>A MANE Select NP_060319.1:n.410-17G>A