Canonical Allele Identifier: CA347652033

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1023949
• ClinVar RCV Id: RCV001324068
• dbSNP Id: rs1684144587
• gnomAD v4: 2-96253924-T-A
• MyVariant Identifiers: chr2:g.96919662T>A (hg19) ; chr2:g.96253924T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253924T>A , CM000664.2:g.96253924T>A	GRCh38
NC_000002.11:g.96919662T>A , CM000664.1:g.96919662T>A	GRCh37
NC_000002.10:g.96283389T>A	NCBI36
NG_027695.1:g.17090A>T , LRG_528:g.17090A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.601A>T MANE Select	ENSP00000258439.3:p.Thr201Ser
ENST00000258439.7:c.601A>T	ENSP00000258439.2:p.Thr201Ser
ENST00000432959.1:c.601A>T	ENSP00000416660.1:p.Thr201Ser
ENST00000435268.1:c.349A>T	ENSP00000411810.1:p.Thr117Ser
NM_001193304.2:c.601A>T	NP_001180233.1:p.Thr201Ser
NM_017849.3:c.601A>T , LRG_528t1:c.601A>T	NP_060319.1:p.Thr201Ser
XM_017004450.1:c.-318A>T	XP_016859939.1:n.-318A>T
XM_017004452.1:c.349A>T	XP_016859941.1:p.Thr117Ser
NM_001193304.3:c.601A>T	NP_001180233.1:p.Thr201Ser
NM_017849.4:c.601A>T MANE Select	NP_060319.1:p.Thr201Ser