Canonical Allele Identifier: CA6034653
Community Standard Title: NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)
Gene: TMEM138 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61368635G>A , CM000673.2:g.61368635G>A GRCh38
NC_000011.9:g.61136107G>A , CM000673.1:g.61136107G>A GRCh37
NC_000011.8:g.60892683G>A NCBI36
NG_032581.1:g.11635G>A

Transcript Alleles

HGVS Amino-acid Change
NM_016464.5:c.415G>A MANE Select NP_057548.1:p.Val139Ile
ENST00000278826.11:c.415G>A MANE Select ENSP00000278826.5:p.Val139Ile
NM_001330281.1:c.241G>A NP_001317210.1:p.Val81Ile
NM_001330281.2:c.241G>A NP_001317210.1:p.Val81Ile
NM_016464.4:c.415G>A NP_057548.1:p.Val139Ile
NR_028473.1:n.857G>A
NR_028473.2:n.484G>A
ENST00000278826.10:c.415G>A ENSP00000278826.5:p.Val139Ile
ENST00000381787.2:c.241G>A ENSP00000371206.2:p.Val81Ile
ENST00000423772.6:n.1934G>A
ENST00000451389.7:c.376+637G>A ENSP00000508581.1:n.376+637G>A
ENST00000507563.7:c.*760G>A ENSP00000510363.1:n.*760G>A
ENST00000539776.1:n.1059G>A
ENST00000542946.2:c.*2401G>A ENSP00000445792.1:n.*2401G>A
ENST00000543594.6:c.*626G>A ENSP00000509354.1:n.*626G>A
ENST00000543833.1:n.95-137G>A
ENST00000545420.1:n.439G>A
ENST00000685597.1:c.*178G>A ENSP00000509403.1:n.*178G>A
ENST00000686820.1:c.*162G>A ENSP00000508587.1:n.*162G>A
ENST00000688279.1:c.*162G>A ENSP00000510422.1:n.*162G>A
ENST00000688430.1:n.341G>A
ENST00000689076.1:c.*1803G>A ENSP00000508469.1:n.*1803G>A
ENST00000689882.1:c.*2466G>A ENSP00000509351.1:n.*2466G>A
ENST00000691720.1:c.376+637G>A ENSP00000509146.1:n.376+637G>A
ENST00000692219.1:c.415G>A ENSP00000510149.1:p.Val139Ile
ENST00000692667.1:c.*178G>A ENSP00000510180.1:n.*178G>A
ENST00000692785.1:c.*479G>A ENSP00000509310.1:n.*479G>A
ENST00000693557.1:c.*466G>A ENSP00000508970.1:n.*466G>A
XM_006718585.3:c.*479G>A XP_006718648.1:n.*479G>A
XM_006718586.1:c.412G>A XP_006718649.1:p.Val138Ile
XM_006718586.2:c.412G>A XP_006718649.1:p.Val138Ile
XM_006718588.2:c.241G>A XP_006718651.1:p.Val81Ile
XM_011545098.1:c.376+637G>A XP_011543400.1:n.376+637G>A
XM_011545098.2:c.376+637G>A XP_011543400.1:n.376+637G>A
XM_011545099.1:c.376+637G>A XP_011543401.1:n.376+637G>A
XM_011545099.2:c.376+637G>A XP_011543401.1:n.376+637G>A
XM_011545100.1:c.376+637G>A XP_011543402.1:n.376+637G>A
XM_017017917.1:c.300+2419G>A XP_016873406.1:n.300+2419G>A
XR_949964.3:n.1109G>A
XR_949965.1:n.1070+637G>A
XR_949966.1:n.1070+637G>A
XR_949966.2:n.1070+637G>A