Canonical Allele Identifier: CA6034584

Gene: TMEM138

Linked Data

• ClinVar Variation Id: 1930109
• ClinVar RCV Id: RCV002626645
• dbSNP Id: rs565197509
• ExAC: 11:61135382 A / G
• gnomAD v2: 11-61135382-A-G
• gnomAD v3: 11-61367910-A-G
• gnomAD v4: 11-61367910-A-G
• MyVariant Identifiers: chr11:g.61135382A>G (hg19) ; chr11:g.61367910A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61367910A>G , CM000673.2:g.61367910A>G	GRCh38
NC_000011.9:g.61135382A>G , CM000673.1:g.61135382A>G	GRCh37
NC_000011.8:g.60891958A>G	NCBI36
NG_032581.1:g.10910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451389.7:c.301-13A>G	ENSP00000508581.1:n.301-13A>G
ENST00000507563.7:c.*48-13A>G	ENSP00000510363.1:n.*48-13A>G
ENST00000542946.2:c.*1676A>G	ENSP00000445792.1:n.*1676A>G
ENST00000543594.6:c.*512-13A>G	ENSP00000509354.1:n.*512-13A>G
ENST00000685597.1:c.301-13A>G	ENSP00000509403.1:n.301-13A>G
ENST00000686820.1:c.*48-13A>G	ENSP00000508587.1:n.*48-13A>G
ENST00000688279.1:c.*48-13A>G	ENSP00000510422.1:n.*48-13A>G
ENST00000688430.1:n.227-13A>G
ENST00000689076.1:c.*1676A>G	ENSP00000508469.1:n.*1676A>G
ENST00000689882.1:c.*1741A>G	ENSP00000509351.1:n.*1741A>G
ENST00000691720.1:c.301-13A>G	ENSP00000509146.1:n.301-13A>G
ENST00000692219.1:c.301-13A>G	ENSP00000510149.1:n.301-13A>G
ENST00000692667.1:c.301-13A>G	ENSP00000510180.1:n.301-13A>G
ENST00000692785.1:c.301-13A>G	ENSP00000509310.1:n.301-13A>G
ENST00000693557.1:c.*339A>G	ENSP00000508970.1:n.*339A>G
ENST00000278826.11:c.301-13A>G MANE Select	ENSP00000278826.5:n.301-13A>G
ENST00000278826.10:c.301-13A>G	ENSP00000278826.5:n.301-13A>G
ENST00000381787.2:c.127-13A>G	ENSP00000371206.2:n.127-13A>G
ENST00000423772.6:n.1820-13A>G
ENST00000451389.6:n.442-13A>G
ENST00000507563.6:n.474-13A>G
ENST00000539776.1:n.932A>G
ENST00000542946.1:c.*1676A>G	ENSP00000445792.1:n.*1676A>G
ENST00000543833.1:n.6A>G
ENST00000545420.1:n.325-13A>G
NM_016464.4:c.301-13A>G	NP_057548.1:n.301-13A>G
NR_028473.1:n.743-13A>G
XM_006718585.2:c.301-13A>G	XP_006718648.1:n.301-13A>G
XM_006718586.1:c.301-13A>G	XP_006718649.1:n.301-13A>G
XM_006718588.2:c.127-13A>G	XP_006718651.1:n.127-13A>G
XM_011545098.1:c.301-13A>G	XP_011543400.1:n.301-13A>G
XM_011545099.1:c.301-13A>G	XP_011543401.1:n.301-13A>G
XM_011545100.1:c.301-13A>G	XP_011543402.1:n.301-13A>G
XR_949964.1:n.982A>G
XR_949965.1:n.982A>G
XR_949966.1:n.982A>G
NM_001330281.1:c.127-13A>G	NP_001317210.1:n.127-13A>G
XM_006718585.3:c.301-13A>G	XP_006718648.1:n.301-13A>G
XM_006718586.2:c.301-13A>G	XP_006718649.1:n.301-13A>G
XM_011545098.2:c.301-13A>G	XP_011543400.1:n.301-13A>G
XM_011545099.2:c.301-13A>G	XP_011543401.1:n.301-13A>G
XM_017017917.1:c.300+1694A>G	XP_016873406.1:n.300+1694A>G
XR_949964.3:n.982A>G
XR_949966.2:n.982A>G
NM_016464.5:c.301-13A>G MANE Select	NP_057548.1:n.301-13A>G
NM_001330281.2:c.127-13A>G	NP_001317210.1:n.127-13A>G
NR_028473.2:n.370-13A>G