Canonical Allele Identifier: CA6034560

Gene: TMEM138

Linked Data

• ClinVar Variation Id: 287964
• ClinVar RCV Id: RCV000320558 ; RCV000350217 ; RCV002521986
• dbSNP Id: rs200399046
• ExAC: 11:61133635 A / G
• gnomAD v2: 11-61133635-A-G
• gnomAD v3: 11-61366163-A-G
• gnomAD v4: 11-61366163-A-G
• MyVariant Identifiers: chr11:g.61133635A>G (hg19) ; chr11:g.61366163A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61366163A>G , CM000673.2:g.61366163A>G	GRCh38
NC_000011.9:g.61133635A>G , CM000673.1:g.61133635A>G	GRCh37
NC_000011.8:g.60890211A>G	NCBI36
NG_032581.1:g.9163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451389.7:c.247A>G	ENSP00000508581.1:p.Ile83Val
ENST00000507563.7:c.189A>G	ENSP00000510363.1:p.Ser63=
ENST00000540194.6:n.1006A>G
ENST00000542946.2:c.247A>G	ENSP00000445792.1:p.Ile83Val
ENST00000543594.6:c.*458A>G	ENSP00000509354.1:n.*458A>G
ENST00000685597.1:c.247A>G	ENSP00000509403.1:p.Ile83Val
ENST00000686820.1:c.189A>G	ENSP00000508587.1:p.Ser63=
ENST00000688279.1:c.189A>G	ENSP00000510422.1:p.Ser63=
ENST00000688430.1:n.173A>G
ENST00000689076.1:c.247A>G	ENSP00000508469.1:p.Ile83Val
ENST00000689882.1:c.189A>G	ENSP00000509351.1:p.Ser63=
ENST00000691720.1:c.247A>G	ENSP00000509146.1:p.Ile83Val
ENST00000692219.1:c.247A>G	ENSP00000510149.1:p.Ile83Val
ENST00000692667.1:c.247A>G	ENSP00000510180.1:p.Ile83Val
ENST00000692785.1:c.247A>G	ENSP00000509310.1:p.Ile83Val
ENST00000693557.1:c.247A>G	ENSP00000508970.1:p.Ile83Val
ENST00000278826.11:c.247A>G MANE Select	ENSP00000278826.5:p.Ile83Val
ENST00000278826.10:c.247A>G	ENSP00000278826.5:p.Ile83Val
ENST00000381787.2:c.73A>G	ENSP00000371206.2:p.Ile25Val
ENST00000423772.6:n.1766A>G
ENST00000451389.6:n.388A>G
ENST00000507563.6:n.420A>G
ENST00000534963.5:n.346A>G
ENST00000540194.5:n.421A>G
ENST00000542946.1:c.247A>G	ENSP00000445792.1:p.Ile83Val
ENST00000545420.1:n.271A>G
NM_016464.4:c.247A>G	NP_057548.1:p.Ile83Val
NR_028473.1:n.689A>G
XM_006718585.2:c.247A>G	XP_006718648.1:p.Ile83Val
XM_006718586.1:c.247A>G	XP_006718649.1:p.Ile83Val
XM_006718588.2:c.73A>G	XP_006718651.1:p.Ile25Val
XM_011545098.1:c.247A>G	XP_011543400.1:p.Ile83Val
XM_011545099.1:c.247A>G	XP_011543401.1:p.Ile83Val
XM_011545100.1:c.247A>G	XP_011543402.1:p.Ile83Val
XR_949964.1:n.446A>G
XR_949965.1:n.446A>G
XR_949966.1:n.446A>G
NM_001330281.1:c.73A>G	NP_001317210.1:p.Ile25Val
XM_006718585.3:c.247A>G	XP_006718648.1:p.Ile83Val
XM_006718586.2:c.247A>G	XP_006718649.1:p.Ile83Val
XM_011545098.2:c.247A>G	XP_011543400.1:p.Ile83Val
XM_011545099.2:c.247A>G	XP_011543401.1:p.Ile83Val
XM_017017917.1:c.247A>G	XP_016873406.1:p.Ile83Val
XR_949964.3:n.446A>G
XR_949966.2:n.446A>G
NM_016464.5:c.247A>G MANE Select	NP_057548.1:p.Ile83Val
NM_001330281.2:c.73A>G	NP_001317210.1:p.Ile25Val
NR_028473.2:n.316A>G