Canonical Allele Identifier: CA534371021

Gene: TMEM127

Linked Data

• dbSNP Id: rs1340539087
• gnomAD v2: 2-96920759-C-T
• gnomAD v3: 2-96255021-C-T
• gnomAD v4: 2-96255021-C-T
• MyVariant Identifiers: chr2:g.96920759C>T (hg19) ; chr2:g.96255021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96255021C>T , CM000664.2:g.96255021C>T	GRCh38
NC_000002.11:g.96920759C>T , CM000664.1:g.96920759C>T	GRCh37
NC_000002.10:g.96284486C>T	NCBI36
NG_027695.1:g.15993G>A , LRG_528:g.15993G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.245-24G>A MANE Select	ENSP00000258439.3:n.245-24G>A
ENST00000258439.7:c.245-24G>A	ENSP00000258439.2:n.245-24G>A
ENST00000432959.1:c.245-24G>A	ENSP00000416660.1:n.245-24G>A
ENST00000435268.1:c.-8-24G>A	ENSP00000411810.1:n.-8-24G>A
NM_001193304.2:c.245-24G>A	NP_001180233.1:n.245-24G>A
NM_017849.3:c.245-24G>A , LRG_528t1:c.245-24G>A	NP_060319.1:n.245-24G>A
XM_017004450.1:c.-674-24G>A	XP_016859939.1:n.-674-24G>A
XM_017004452.1:c.-8-24G>A	XP_016859941.1:n.-8-24G>A
NM_001193304.3:c.245-24G>A	NP_001180233.1:n.245-24G>A
NM_017849.4:c.245-24G>A MANE Select	NP_060319.1:n.245-24G>A