Canonical Allele Identifier: CA45685050

Gene: TMEM178A

Linked Data

• dbSNP Id: rs148155427
• gnomAD v2: 2-39939391-C-A
• gnomAD v3: 2-39712251-C-A
• gnomAD v4: 2-39712251-C-A
• MyVariant Identifiers: chr2:g.39939391C>A (hg19) ; chr2:g.39712251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712251C>A , CM000664.2:g.39712251C>A	GRCh38
NC_000002.11:g.39939391C>A , CM000664.1:g.39939391C>A	GRCh37
NC_000002.10:g.39792895C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.653-4759C>A MANE Select	ENSP00000281961.2:n.653-4759C>A
ENST00000281961.2:c.653-4759C>A	ENSP00000281961.2:n.653-4759C>A
ENST00000413011.5:n.372-4759C>A
ENST00000482239.5:n.396-4759C>A
ENST00000495402.1:n.432-4759C>A
ENST00000618232.1:c.*42-4759C>A	ENSP00000477622.1:n.*42-4759C>A
NM_001167959.1:c.107-4759C>A	NP_001161431.1:n.107-4759C>A
NM_152390.2:c.653-4759C>A	NP_689603.2:n.653-4759C>A
XM_005264144.1:c.515-4759C>A	XP_005264201.1:n.515-4759C>A
XM_005264145.1:c.401-4759C>A	XP_005264202.1:n.401-4759C>A
XM_017003369.1:c.*709C>A	XP_016858858.1:n.*709C>A
XM_017003370.2:c.107-4759C>A	XP_016858859.1:n.107-4759C>A
XM_017003371.1:c.107-4759C>A	XP_016858860.1:n.107-4759C>A
XM_024452702.1:c.401-22978C>A	XP_024308470.1:n.401-22978C>A
XM_024452703.1:c.107-4759C>A	XP_024308471.1:n.107-4759C>A
XM_024452704.1:c.107-4759C>A	XP_024308472.1:n.107-4759C>A
XM_024452705.1:c.107-4759C>A	XP_024308473.1:n.107-4759C>A
NM_152390.3:c.653-4759C>A MANE Select	NP_689603.2:n.653-4759C>A
NM_001167959.2:c.107-4759C>A	NP_001161431.1:n.107-4759C>A