Canonical Allele Identifier: CA347653184

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2625503
• ClinVar RCV Id: RCV003380262
• gnomAD v4: 2-96254110-G-A
• MyVariant Identifiers: chr2:g.96919848G>A (hg19) ; chr2:g.96254110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254110G>A , CM000664.2:g.96254110G>A	GRCh38
NC_000002.11:g.96919848G>A , CM000664.1:g.96919848G>A	GRCh37
NC_000002.10:g.96283575G>A	NCBI36
NG_027695.1:g.16904C>T , LRG_528:g.16904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.415C>T MANE Select	ENSP00000258439.3:p.Gln139Ter
ENST00000258439.7:c.415C>T	ENSP00000258439.2:p.Gln139Ter
ENST00000432959.1:c.415C>T	ENSP00000416660.1:p.Gln139Ter
ENST00000435268.1:c.163C>T	ENSP00000411810.1:p.Gln55Ter
NM_001193304.2:c.415C>T	NP_001180233.1:p.Gln139Ter
NM_017849.3:c.415C>T , LRG_528t1:c.415C>T	NP_060319.1:p.Gln139Ter
XM_017004450.1:c.-504C>T	XP_016859939.1:n.-504C>T
XM_017004452.1:c.163C>T	XP_016859941.1:p.Gln55Ter
NM_001193304.3:c.415C>T	NP_001180233.1:p.Gln139Ter
NM_017849.4:c.415C>T MANE Select	NP_060319.1:p.Gln139Ter