Canonical Allele Identifier: CA531977336

Gene: TMEM178A

Linked Data

• dbSNP Id: rs1405147909
• gnomAD v2: 2-39939233-C-T
• gnomAD v3: 2-39712093-C-T
• gnomAD v4: 2-39712093-C-T
• MyVariant Identifiers: chr2:g.39939233C>T (hg19) ; chr2:g.39712093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712093C>T , CM000664.2:g.39712093C>T	GRCh38
NC_000002.11:g.39939233C>T , CM000664.1:g.39939233C>T	GRCh37
NC_000002.10:g.39792737C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4907C>T MANE Select	ENSP00000281961.2:n.652+4907C>T
ENST00000281961.2:c.652+4907C>T	ENSP00000281961.2:n.652+4907C>T
ENST00000413011.5:n.371+4907C>T
ENST00000482239.5:n.395+4907C>T
ENST00000495402.1:n.431+4907C>T
ENST00000618232.1:c.*42-4917C>T	ENSP00000477622.1:n.*42-4917C>T
NM_001167959.1:c.106+4907C>T	NP_001161431.1:n.106+4907C>T
NM_152390.2:c.652+4907C>T	NP_689603.2:n.652+4907C>T
XM_005264144.1:c.515-4917C>T	XP_005264201.1:n.515-4917C>T
XM_005264145.1:c.401-4917C>T	XP_005264202.1:n.401-4917C>T
XM_017003369.1:c.*551C>T	XP_016858858.1:n.*551C>T
XM_017003370.2:c.106+4907C>T	XP_016858859.1:n.106+4907C>T
XM_017003371.1:c.106+4907C>T	XP_016858860.1:n.106+4907C>T
XM_024452702.1:c.401-23136C>T	XP_024308470.1:n.401-23136C>T
XM_024452703.1:c.106+4907C>T	XP_024308471.1:n.106+4907C>T
XM_024452704.1:c.106+4907C>T	XP_024308472.1:n.106+4907C>T
XM_024452705.1:c.106+4907C>T	XP_024308473.1:n.106+4907C>T
NM_152390.3:c.652+4907C>T MANE Select	NP_689603.2:n.652+4907C>T
NM_001167959.2:c.106+4907C>T	NP_001161431.1:n.106+4907C>T