Canonical Allele Identifier: CA347653135

Gene: TMEM127

Linked Data

• dbSNP Id: rs2104285313
• gnomAD v4: 2-96254100-G-A
• MyVariant Identifiers: chr2:g.96919838G>A (hg19) ; chr2:g.96254100G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.425C>T MANE Select	ENSP00000258439.3:p.Thr142Ile
ENST00000258439.7:c.425C>T	ENSP00000258439.2:p.Thr142Ile
ENST00000432959.1:c.425C>T	ENSP00000416660.1:p.Thr142Ile
ENST00000435268.1:c.173C>T	ENSP00000411810.1:p.Thr58Ile
NM_001193304.2:c.425C>T	NP_001180233.1:p.Thr142Ile
NM_017849.3:c.425C>T , LRG_528t1:c.425C>T	NP_060319.1:p.Thr142Ile
XM_017004450.1:c.-494C>T	XP_016859939.1:n.-494C>T
XM_017004452.1:c.173C>T	XP_016859941.1:p.Thr58Ile
NM_001193304.3:c.425C>T	NP_001180233.1:p.Thr142Ile
NM_017849.4:c.425C>T MANE Select	NP_060319.1:p.Thr142Ile