Canonical Allele Identifier: CA5082105

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2998144
• ClinVar RCV Id: RCV003856807
• dbSNP Id: rs748887932
• ExAC: 9:75436014 A / G
• gnomAD v2: 9-75436014-A-G
• gnomAD v3: 9-72821098-A-G
• gnomAD v4: 9-72821098-A-G
• MyVariant Identifiers: chr9:g.75436014A>G (hg19) ; chr9:g.72821098A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821098A>G , CM000671.2:g.72821098A>G	GRCh38
NC_000009.11:g.75436014A>G , CM000671.1:g.75436014A>G	GRCh37
NC_000009.10:g.74625834A>G	NCBI36
NG_008213.1:g.304298A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+17A>G MANE Select	ENSP00000297784.6:n.2003+17A>G
ENST00000644967.1:c.*443+17A>G	ENSP00000496159.1:n.*443+17A>G
ENST00000645053.1:c.1258-5771A>G	ENSP00000493838.1:n.1258-5771A>G
ENST00000645208.2:c.2003+17A>G	ENSP00000494684.1:n.2003+17A>G
ENST00000645773.1:c.1877+17A>G	ENSP00000493698.1:n.1877+17A>G
ENST00000645787.1:n.2146+17A>G
ENST00000646619.1:c.1565+17A>G	ENSP00000493726.1:n.1565+17A>G
ENST00000651183.1:c.1565+17A>G	ENSP00000498723.1:n.1565+17A>G
ENST00000297784.9:c.2003+17A>G	ENSP00000297784.5:n.2003+17A>G
ENST00000340019.4:c.2003+17A>G	ENSP00000341433.3:n.2003+17A>G
ENST00000469455.1:n.484+17A>G
ENST00000486417.5:n.901+17A>G
NM_138691.2:c.2003+17A>G	NP_619636.2:n.2003+17A>G
XM_011518213.1:c.2591+17A>G	XP_011516515.1:n.2591+17A>G
XM_017014256.1:c.2006+17A>G	XP_016869745.1:n.2006+17A>G
NM_138691.3:c.2003+17A>G MANE Select	NP_619636.2:n.2003+17A>G