Canonical Allele Identifier: CA2577034256
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 2726052
ClinVar RCV Id: RCV003518508

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96255002A>C , CM000664.2:g.96255002A>C GRCh38
NC_000002.11:g.96920740A>C , CM000664.1:g.96920740A>C GRCh37
NC_000002.10:g.96284467A>C NCBI36
NG_027695.1:g.16012T>G , LRG_528:g.16012T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258439.8:c.245-5T>G MANE Select ENSP00000258439.3:n.245-5T>G
ENST00000258439.7:c.245-5T>G ENSP00000258439.2:n.245-5T>G
ENST00000432959.1:c.245-5T>G ENSP00000416660.1:n.245-5T>G
ENST00000435268.1:c.-8-5T>G ENSP00000411810.1:n.-8-5T>G
NM_001193304.2:c.245-5T>G NP_001180233.1:n.245-5T>G
NM_017849.3:c.245-5T>G , LRG_528t1:c.245-5T>G NP_060319.1:n.245-5T>G
XM_017004450.1:c.-674-5T>G XP_016859939.1:n.-674-5T>G
XM_017004452.1:c.-8-5T>G XP_016859941.1:n.-8-5T>G
NM_001193304.3:c.245-5T>G NP_001180233.1:n.245-5T>G
NM_017849.4:c.245-5T>G MANE Select NP_060319.1:n.245-5T>G