Canonical Allele Identifier: CA347653187

Gene: TMEM127

Linked Data

• dbSNP Id: rs772714957
• gnomAD v3: 2-96254112-A-T
• gnomAD v4: 2-96254112-A-T
• MyVariant Identifiers: chr2:g.96919850A>T (hg19) ; chr2:g.96254112A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254112A>T , CM000664.2:g.96254112A>T	GRCh38
NC_000002.11:g.96919850A>T , CM000664.1:g.96919850A>T	GRCh37
NC_000002.10:g.96283577A>T	NCBI36
NG_027695.1:g.16902T>A , LRG_528:g.16902T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.413T>A MANE Select	ENSP00000258439.3:p.Leu138Gln
ENST00000258439.7:c.413T>A	ENSP00000258439.2:p.Leu138Gln
ENST00000432959.1:c.413T>A	ENSP00000416660.1:p.Leu138Gln
ENST00000435268.1:c.161T>A	ENSP00000411810.1:p.Leu54Gln
NM_001193304.2:c.413T>A	NP_001180233.1:p.Leu138Gln
NM_017849.3:c.413T>A , LRG_528t1:c.413T>A	NP_060319.1:p.Leu138Gln
XM_017004450.1:c.-506T>A	XP_016859939.1:n.-506T>A
XM_017004452.1:c.161T>A	XP_016859941.1:p.Leu54Gln
NM_001193304.3:c.413T>A	NP_001180233.1:p.Leu138Gln
NM_017849.4:c.413T>A MANE Select	NP_060319.1:p.Leu138Gln