Canonical Allele Identifier: CA380680049

Gene: TMEM138

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61367933G>A , CM000673.2:g.61367933G>A	GRCh38
NC_000011.9:g.61135405G>A , CM000673.1:g.61135405G>A	GRCh37
NC_000011.8:g.60891981G>A	NCBI36
NG_032581.1:g.10933G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016464.5:c.311G>A MANE Select	NP_057548.1:p.Trp104Ter
ENST00000278826.11:c.311G>A MANE Select	ENSP00000278826.5:p.Trp104Ter
NM_001330281.1:c.137G>A	NP_001317210.1:p.Trp46Ter
NM_001330281.2:c.137G>A	NP_001317210.1:p.Trp46Ter
NM_016464.4:c.311G>A	NP_057548.1:p.Trp104Ter
NR_028473.1:n.753G>A
NR_028473.2:n.380G>A
ENST00000278826.10:c.311G>A	ENSP00000278826.5:p.Trp104Ter
ENST00000381787.2:c.137G>A	ENSP00000371206.2:p.Trp46Ter
ENST00000423772.6:n.1830G>A
ENST00000451389.6:n.452G>A
ENST00000451389.7:c.311G>A	ENSP00000508581.1:p.Trp104Ter
ENST00000507563.6:n.484G>A
ENST00000507563.7:c.*58G>A	ENSP00000510363.1:n.*58G>A
ENST00000539776.1:n.955G>A
ENST00000542946.1:c.*1699G>A	ENSP00000445792.1:n.*1699G>A
ENST00000542946.2:c.*1699G>A	ENSP00000445792.1:n.*1699G>A
ENST00000543594.6:c.*522G>A	ENSP00000509354.1:n.*522G>A
ENST00000543833.1:n.29G>A
ENST00000545420.1:n.335G>A
ENST00000685597.1:c.311G>A	ENSP00000509403.1:p.Trp104Ter
ENST00000686820.1:c.*58G>A	ENSP00000508587.1:n.*58G>A
ENST00000688279.1:c.*58G>A	ENSP00000510422.1:n.*58G>A
ENST00000688430.1:n.237G>A
ENST00000689076.1:c.*1699G>A	ENSP00000508469.1:n.*1699G>A
ENST00000689882.1:c.*1764G>A	ENSP00000509351.1:n.*1764G>A
ENST00000691720.1:c.311G>A	ENSP00000509146.1:p.Trp104Ter
ENST00000692219.1:c.311G>A	ENSP00000510149.1:p.Trp104Ter
ENST00000692667.1:c.311G>A	ENSP00000510180.1:p.Trp104Ter
ENST00000692785.1:c.311G>A	ENSP00000509310.1:p.Trp104Ter
ENST00000693557.1:c.*362G>A	ENSP00000508970.1:n.*362G>A
XM_006718585.2:c.311G>A	XP_006718648.1:p.Trp104Ter
XM_006718585.3:c.311G>A	XP_006718648.1:p.Trp104Ter
XM_006718586.1:c.311G>A	XP_006718649.1:p.Trp104Ter
XM_006718586.2:c.311G>A	XP_006718649.1:p.Trp104Ter
XM_006718588.2:c.137G>A	XP_006718651.1:p.Trp46Ter
XM_011545098.1:c.311G>A	XP_011543400.1:p.Trp104Ter
XM_011545098.2:c.311G>A	XP_011543400.1:p.Trp104Ter
XM_011545099.1:c.311G>A	XP_011543401.1:p.Trp104Ter
XM_011545099.2:c.311G>A	XP_011543401.1:p.Trp104Ter
XM_011545100.1:c.311G>A	XP_011543402.1:p.Trp104Ter
XM_017017917.1:c.300+1717G>A	XP_016873406.1:n.300+1717G>A
XR_949964.1:n.1005G>A
XR_949964.3:n.1005G>A
XR_949965.1:n.1005G>A
XR_949966.1:n.1005G>A
XR_949966.2:n.1005G>A