Canonical Allele Identifier: CA1777366

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 486538
• ClinVar RCV Id: RCV000565401 ; RCV000703531 ; RCV003488705
• dbSNP Id: rs181429509
• ExAC: 2:96920738 G / A
• gnomAD v2: 2-96920738-G-A
• gnomAD v3: 2-96255000-G-A
• gnomAD v4: 2-96255000-G-A
• MyVariant Identifiers: chr2:g.96920738G>A (hg19) ; chr2:g.96255000G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96255000G>A , CM000664.2:g.96255000G>A	GRCh38
NC_000002.11:g.96920738G>A , CM000664.1:g.96920738G>A	GRCh37
NC_000002.10:g.96284465G>A	NCBI36
NG_027695.1:g.16014C>T , LRG_528:g.16014C>T

Transcript Alleles

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