Canonical Allele Identifier: CA427807872
Gene: TMEM127 HGNC NCBI

Linked Data

dbSNP Id: rs2104283906
MyVariant Identifiers: chr2:g.96919687T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96253949T>A , CM000664.2:g.96253949T>A GRCh38
NC_000002.11:g.96919687T>A , CM000664.1:g.96919687T>A GRCh37
NC_000002.10:g.96283414T>A NCBI36
NG_027695.1:g.17065A>T , LRG_528:g.17065A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.576A>T MANE Select ENSP00000258439.3:p.Ala192=
ENST00000258439.7:c.576A>T ENSP00000258439.2:p.Ala192=
ENST00000432959.1:c.576A>T ENSP00000416660.1:p.Ala192=
ENST00000435268.1:c.324A>T ENSP00000411810.1:p.Ala108=
NM_001193304.2:c.576A>T NP_001180233.1:p.Ala192=
NM_017849.3:c.576A>T , LRG_528t1:c.576A>T NP_060319.1:p.Ala192=
XM_017004450.1:c.-343A>T XP_016859939.1:n.-343A>T
XM_017004452.1:c.324A>T XP_016859941.1:p.Ala108=
NM_001193304.3:c.576A>T NP_001180233.1:p.Ala192=
NM_017849.4:c.576A>T MANE Select NP_060319.1:p.Ala192=