Canonical Allele Identifier: CA347653175

Gene: TMEM127

Linked Data

• MyVariant Identifiers: chr2:g.96919846C>A (hg19) ; chr2:g.96254108C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254108C>A , CM000664.2:g.96254108C>A	GRCh38
NC_000002.11:g.96919846C>A , CM000664.1:g.96919846C>A	GRCh37
NC_000002.10:g.96283573C>A	NCBI36
NG_027695.1:g.16906G>T , LRG_528:g.16906G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.417G>T MANE Select	ENSP00000258439.3:p.Gln139His
ENST00000258439.7:c.417G>T	ENSP00000258439.2:p.Gln139His
ENST00000432959.1:c.417G>T	ENSP00000416660.1:p.Gln139His
ENST00000435268.1:c.165G>T	ENSP00000411810.1:p.Gln55His
NM_001193304.2:c.417G>T	NP_001180233.1:p.Gln139His
NM_017849.3:c.417G>T , LRG_528t1:c.417G>T	NP_060319.1:p.Gln139His
XM_017004450.1:c.-502G>T	XP_016859939.1:n.-502G>T
XM_017004452.1:c.165G>T	XP_016859941.1:p.Gln55His
NM_001193304.3:c.417G>T	NP_001180233.1:p.Gln139His
NM_017849.4:c.417G>T MANE Select	NP_060319.1:p.Gln139His