Canonical Allele Identifier: CA1272522583

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2895101
• ClinVar RCV Id: RCV003633468
• dbSNP Id: rs1573970399
• gnomAD v4: 2-96255007-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96255007G>A , CM000664.2:g.96255007G>A	GRCh38
NC_000002.11:g.96920745G>A , CM000664.1:g.96920745G>A	GRCh37
NC_000002.10:g.96284472G>A	NCBI36
NG_027695.1:g.16007C>T , LRG_528:g.16007C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.245-10C>T MANE Select	ENSP00000258439.3:n.245-10C>T
ENST00000258439.7:c.245-10C>T	ENSP00000258439.2:n.245-10C>T
ENST00000432959.1:c.245-10C>T	ENSP00000416660.1:n.245-10C>T
ENST00000435268.1:c.-8-10C>T	ENSP00000411810.1:n.-8-10C>T
NM_001193304.2:c.245-10C>T	NP_001180233.1:n.245-10C>T
NM_017849.3:c.245-10C>T , LRG_528t1:c.245-10C>T	NP_060319.1:n.245-10C>T
XM_017004450.1:c.-674-10C>T	XP_016859939.1:n.-674-10C>T
XM_017004452.1:c.-8-10C>T	XP_016859941.1:n.-8-10C>T
NM_001193304.3:c.245-10C>T	NP_001180233.1:n.245-10C>T
NM_017849.4:c.245-10C>T MANE Select	NP_060319.1:n.245-10C>T