Canonical Allele Identifier: CA1125383595

Gene: TMC1

Linked Data

• dbSNP Id: rs1828867714
• gnomAD v3: 9-72821254-G-A
• gnomAD v4: 9-72821254-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821254G>A , CM000671.2:g.72821254G>A	GRCh38
NC_000009.11:g.75436170G>A , CM000671.1:g.75436170G>A	GRCh37
NC_000009.10:g.74625990G>A	NCBI36
NG_008213.1:g.304454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+173G>A MANE Select	ENSP00000297784.6:n.2003+173G>A
ENST00000644967.1:c.*443+173G>A	ENSP00000496159.1:n.*443+173G>A
ENST00000645053.1:c.1258-5615G>A	ENSP00000493838.1:n.1258-5615G>A
ENST00000645208.2:c.2003+173G>A	ENSP00000494684.1:n.2003+173G>A
ENST00000645773.1:c.1877+173G>A	ENSP00000493698.1:n.1877+173G>A
ENST00000645787.1:n.2146+173G>A
ENST00000646619.1:c.1565+173G>A	ENSP00000493726.1:n.1565+173G>A
ENST00000651183.1:c.1565+173G>A	ENSP00000498723.1:n.1565+173G>A
ENST00000297784.9:c.2003+173G>A	ENSP00000297784.5:n.2003+173G>A
ENST00000340019.4:c.2003+173G>A	ENSP00000341433.3:n.2003+173G>A
ENST00000469455.1:n.484+173G>A
ENST00000486417.5:n.901+173G>A
NM_138691.2:c.2003+173G>A	NP_619636.2:n.2003+173G>A
XM_011518213.1:c.2591+173G>A	XP_011516515.1:n.2591+173G>A
XM_017014256.1:c.2006+173G>A	XP_016869745.1:n.2006+173G>A
NM_138691.3:c.2003+173G>A MANE Select	NP_619636.2:n.2003+173G>A