Canonical Allele Identifier: CA1029629298
Gene: TMEM178A HGNC NCBI

Linked Data

dbSNP Id: rs563011749
gnomAD v3: 2-39712509-G-C
gnomAD v4: 2-39712509-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39712509G>C , CM000664.2:g.39712509G>C GRCh38
NC_000002.11:g.39939649G>C , CM000664.1:g.39939649G>C GRCh37
NC_000002.10:g.39793153G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000281961.3:c.653-4501G>C MANE Select ENSP00000281961.2:n.653-4501G>C
ENST00000281961.2:c.653-4501G>C ENSP00000281961.2:n.653-4501G>C
ENST00000413011.5:n.372-4501G>C
ENST00000482239.5:n.396-4501G>C
ENST00000495402.1:n.432-4501G>C
ENST00000618232.1:c.*42-4501G>C ENSP00000477622.1:n.*42-4501G>C
NM_001167959.1:c.107-4501G>C NP_001161431.1:n.107-4501G>C
NM_152390.2:c.653-4501G>C NP_689603.2:n.653-4501G>C
XM_005264144.1:c.515-4501G>C XP_005264201.1:n.515-4501G>C
XM_005264145.1:c.401-4501G>C XP_005264202.1:n.401-4501G>C
XM_017003369.1:c.*967G>C XP_016858858.1:n.*967G>C
XM_017003370.2:c.107-4501G>C XP_016858859.1:n.107-4501G>C
XM_017003371.1:c.107-4501G>C XP_016858860.1:n.107-4501G>C
XM_024452702.1:c.401-22720G>C XP_024308470.1:n.401-22720G>C
XM_024452703.1:c.107-4501G>C XP_024308471.1:n.107-4501G>C
XM_024452704.1:c.107-4501G>C XP_024308472.1:n.107-4501G>C
XM_024452705.1:c.107-4501G>C XP_024308473.1:n.107-4501G>C
NM_152390.3:c.653-4501G>C MANE Select NP_689603.2:n.653-4501G>C
NM_001167959.2:c.107-4501G>C NP_001161431.1:n.107-4501G>C