Canonical Allele Identifier: CA52412069

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 952912
• ClinVar RCV Id: RCV001225118 ; RCV002339605
• dbSNP Id: rs994504317
• gnomAD v4: 2-96254025-G-A
• MyVariant Identifiers: chr2:g.96919763G>A (hg19) ; chr2:g.96254025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254025G>A , CM000664.2:g.96254025G>A	GRCh38
NC_000002.11:g.96919763G>A , CM000664.1:g.96919763G>A	GRCh37
NC_000002.10:g.96283490G>A	NCBI36
NG_027695.1:g.16989C>T , LRG_528:g.16989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.500C>T MANE Select	ENSP00000258439.3:p.Ser167Phe
ENST00000258439.7:c.500C>T	ENSP00000258439.2:p.Ser167Phe
ENST00000432959.1:c.500C>T	ENSP00000416660.1:p.Ser167Phe
ENST00000435268.1:c.248C>T	ENSP00000411810.1:p.Ser83Phe
NM_001193304.2:c.500C>T	NP_001180233.1:p.Ser167Phe
NM_017849.3:c.500C>T , LRG_528t1:c.500C>T	NP_060319.1:p.Ser167Phe
XM_017004450.1:c.-419C>T	XP_016859939.1:n.-419C>T
XM_017004452.1:c.248C>T	XP_016859941.1:p.Ser83Phe
NM_001193304.3:c.500C>T	NP_001180233.1:p.Ser167Phe
NM_017849.4:c.500C>T MANE Select	NP_060319.1:p.Ser167Phe