Canonical Allele Identifier: CA347653137

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2062860
• ClinVar RCV Id: RCV002958059 ; RCV003377808
• gnomAD v4: 2-96254100-G-T
• MyVariant Identifiers: chr2:g.96919838G>T (hg19) ; chr2:g.96254100G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254100G>T , CM000664.2:g.96254100G>T	GRCh38
NC_000002.11:g.96919838G>T , CM000664.1:g.96919838G>T	GRCh37
NC_000002.10:g.96283565G>T	NCBI36
NG_027695.1:g.16914C>A , LRG_528:g.16914C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.425C>A MANE Select	ENSP00000258439.3:p.Thr142Asn
ENST00000258439.7:c.425C>A	ENSP00000258439.2:p.Thr142Asn
ENST00000432959.1:c.425C>A	ENSP00000416660.1:p.Thr142Asn
ENST00000435268.1:c.173C>A	ENSP00000411810.1:p.Thr58Asn
NM_001193304.2:c.425C>A	NP_001180233.1:p.Thr142Asn
NM_017849.3:c.425C>A , LRG_528t1:c.425C>A	NP_060319.1:p.Thr142Asn
XM_017004450.1:c.-494C>A	XP_016859939.1:n.-494C>A
XM_017004452.1:c.173C>A	XP_016859941.1:p.Thr58Asn
NM_001193304.3:c.425C>A	NP_001180233.1:p.Thr142Asn
NM_017849.4:c.425C>A MANE Select	NP_060319.1:p.Thr142Asn