Canonical Allele Identifier: CA2596312849

Gene: TMEM178A

Linked Data

• dbSNP Id: rs2148115521
• gnomAD v3: 2-39712266-G-C
• gnomAD v4: 2-39712266-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712266G>C , CM000664.2:g.39712266G>C	GRCh38
NC_000002.11:g.39939406G>C , CM000664.1:g.39939406G>C	GRCh37
NC_000002.10:g.39792910G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.653-4744G>C MANE Select	ENSP00000281961.2:n.653-4744G>C
ENST00000281961.2:c.653-4744G>C	ENSP00000281961.2:n.653-4744G>C
ENST00000413011.5:n.372-4744G>C
ENST00000482239.5:n.396-4744G>C
ENST00000495402.1:n.432-4744G>C
ENST00000618232.1:c.*42-4744G>C	ENSP00000477622.1:n.*42-4744G>C
NM_001167959.1:c.107-4744G>C	NP_001161431.1:n.107-4744G>C
NM_152390.2:c.653-4744G>C	NP_689603.2:n.653-4744G>C
XM_005264144.1:c.515-4744G>C	XP_005264201.1:n.515-4744G>C
XM_005264145.1:c.401-4744G>C	XP_005264202.1:n.401-4744G>C
XM_017003369.1:c.*724G>C	XP_016858858.1:n.*724G>C
XM_017003370.2:c.107-4744G>C	XP_016858859.1:n.107-4744G>C
XM_017003371.1:c.107-4744G>C	XP_016858860.1:n.107-4744G>C
XM_024452702.1:c.401-22963G>C	XP_024308470.1:n.401-22963G>C
XM_024452703.1:c.107-4744G>C	XP_024308471.1:n.107-4744G>C
XM_024452704.1:c.107-4744G>C	XP_024308472.1:n.107-4744G>C
XM_024452705.1:c.107-4744G>C	XP_024308473.1:n.107-4744G>C
NM_152390.3:c.653-4744G>C MANE Select	NP_689603.2:n.653-4744G>C
NM_001167959.2:c.107-4744G>C	NP_001161431.1:n.107-4744G>C