Canonical Allele Identifier: CA1029629114

Gene: TMEM178A

Linked Data

• dbSNP Id: rs1672331496
• gnomAD v3: 2-39712045-G-GTGTA
• gnomAD v4: 2-39712045-G-GTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712048_39712049insATGT , CM000664.2:g.39712048_39712049insATGT	GRCh38
NC_000002.11:g.39939188_39939189insATGT , CM000664.1:g.39939188_39939189insATGT	GRCh37
NC_000002.10:g.39792692_39792693insATGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4862_652+4863insATGT MANE Select	ENSP00000281961.2:n.652+4862_652+4863insATGT
ENST00000281961.2:c.652+4862_652+4863insATGT	ENSP00000281961.2:n.652+4862_652+4863insATGT
ENST00000413011.5:n.371+4862_371+4863insATGT
ENST00000482239.5:n.395+4862_395+4863insATGT
ENST00000495402.1:n.431+4862_431+4863insATGT
ENST00000618232.1:c.*42-4962_*42-4961insATGT	ENSP00000477622.1:n.*42-4962_*42-4961insATGT
NM_001167959.1:c.106+4862_106+4863insATGT	NP_001161431.1:n.106+4862_106+4863insATGT
NM_152390.2:c.652+4862_652+4863insATGT	NP_689603.2:n.652+4862_652+4863insATGT
XM_005264144.1:c.515-4962_515-4961insATGT	XP_005264201.1:n.515-4962_515-4961insATGT
XM_005264145.1:c.401-4962_401-4961insATGT	XP_005264202.1:n.401-4962_401-4961insATGT
XM_017003369.1:c.*506_*507insATGT	XP_016858858.1:n.*506_*507insATGT
XM_017003370.2:c.106+4862_106+4863insATGT	XP_016858859.1:n.106+4862_106+4863insATGT
XM_017003371.1:c.106+4862_106+4863insATGT	XP_016858860.1:n.106+4862_106+4863insATGT
XM_024452702.1:c.401-23181_401-23180insATGT	XP_024308470.1:n.401-23181_401-23180insATGT
XM_024452703.1:c.106+4862_106+4863insATGT	XP_024308471.1:n.106+4862_106+4863insATGT
XM_024452704.1:c.106+4862_106+4863insATGT	XP_024308472.1:n.106+4862_106+4863insATGT
XM_024452705.1:c.106+4862_106+4863insATGT	XP_024308473.1:n.106+4862_106+4863insATGT
NM_152390.3:c.652+4862_652+4863insATGT MANE Select	NP_689603.2:n.652+4862_652+4863insATGT
NM_001167959.2:c.106+4862_106+4863insATGT	NP_001161431.1:n.106+4862_106+4863insATGT