Canonical Allele Identifier: CA534371030

Gene: TMEM127

Linked Data

• gnomAD v2: 2-96920842-G-A
• gnomAD v4: 2-96255104-G-A
• MyVariant Identifiers: chr2:g.96920842G>A (hg19) ; chr2:g.96255104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96255104G>A , CM000664.2:g.96255104G>A	GRCh38
NC_000002.11:g.96920842G>A , CM000664.1:g.96920842G>A	GRCh37
NC_000002.10:g.96284569G>A	NCBI36
NG_027695.1:g.15910C>T , LRG_528:g.15910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.245-107C>T MANE Select	ENSP00000258439.3:n.245-107C>T
ENST00000258439.7:c.245-107C>T	ENSP00000258439.2:n.245-107C>T
ENST00000432959.1:c.245-107C>T	ENSP00000416660.1:n.245-107C>T
ENST00000435268.1:c.-8-107C>T	ENSP00000411810.1:n.-8-107C>T
NM_001193304.2:c.245-107C>T	NP_001180233.1:n.245-107C>T
NM_017849.3:c.245-107C>T , LRG_528t1:c.245-107C>T	NP_060319.1:n.245-107C>T
XM_017004450.1:c.-674-107C>T	XP_016859939.1:n.-674-107C>T
XM_017004452.1:c.-8-107C>T	XP_016859941.1:n.-8-107C>T
NM_001193304.3:c.245-107C>T	NP_001180233.1:n.245-107C>T
NM_017849.4:c.245-107C>T MANE Select	NP_060319.1:n.245-107C>T