Canonical Allele Identifier: CA427495512

Gene: TMEM127

Linked Data

• dbSNP Id: rs1236241988
• gnomAD v2: 2-96920674-C-A
• gnomAD v4: 2-96254936-C-A
• MyVariant Identifiers: chr2:g.96920674C>A (hg19) ; chr2:g.96254936C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254936C>A , CM000664.2:g.96254936C>A	GRCh38
NC_000002.11:g.96920674C>A , CM000664.1:g.96920674C>A	GRCh37
NC_000002.10:g.96284401C>A	NCBI36
NG_027695.1:g.16078G>T , LRG_528:g.16078G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.306G>T MANE Select	ENSP00000258439.3:p.Leu102=
ENST00000258439.7:c.306G>T	ENSP00000258439.2:p.Leu102=
ENST00000432959.1:c.306G>T	ENSP00000416660.1:p.Leu102=
ENST00000435268.1:c.54G>T	ENSP00000411810.1:p.Leu18=
NM_001193304.2:c.306G>T	NP_001180233.1:p.Leu102=
NM_017849.3:c.306G>T , LRG_528t1:c.306G>T	NP_060319.1:p.Leu102=
XM_017004450.1:c.-613G>T	XP_016859939.1:n.-613G>T
XM_017004452.1:c.54G>T	XP_016859941.1:p.Leu18=
NM_001193304.3:c.306G>T	NP_001180233.1:p.Leu102=
NM_017849.4:c.306G>T MANE Select	NP_060319.1:p.Leu102=