Canonical Allele Identifier: CA347653048

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1057964
• ClinVar RCV Id: RCV001367043
• dbSNP Id: rs1684152230
• gnomAD v4: 2-96254082-T-A
• MyVariant Identifiers: chr2:g.96919820T>A (hg19) ; chr2:g.96254082T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254082T>A , CM000664.2:g.96254082T>A	GRCh38
NC_000002.11:g.96919820T>A , CM000664.1:g.96919820T>A	GRCh37
NC_000002.10:g.96283547T>A	NCBI36
NG_027695.1:g.16932A>T , LRG_528:g.16932A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.443A>T MANE Select	ENSP00000258439.3:p.Tyr148Phe
ENST00000258439.7:c.443A>T	ENSP00000258439.2:p.Tyr148Phe
ENST00000432959.1:c.443A>T	ENSP00000416660.1:p.Tyr148Phe
ENST00000435268.1:c.191A>T	ENSP00000411810.1:p.Tyr64Phe
NM_001193304.2:c.443A>T	NP_001180233.1:p.Tyr148Phe
NM_017849.3:c.443A>T , LRG_528t1:c.443A>T	NP_060319.1:p.Tyr148Phe
XM_017004450.1:c.-476A>T	XP_016859939.1:n.-476A>T
XM_017004452.1:c.191A>T	XP_016859941.1:p.Tyr64Phe
NM_001193304.3:c.443A>T	NP_001180233.1:p.Tyr148Phe
NM_017849.4:c.443A>T MANE Select	NP_060319.1:p.Tyr148Phe