Canonical Allele Identifier: CA193296881

Gene: TMC1

Linked Data

• dbSNP Id: rs758130245
• gnomAD v2: 9-75435635-G-A
• gnomAD v3: 9-72820719-G-A
• gnomAD v4: 9-72820719-G-A
• MyVariant Identifiers: chr9:g.75435635G>A (hg19) ; chr9:g.72820719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820719G>A , CM000671.2:g.72820719G>A	GRCh38
NC_000009.11:g.75435635G>A , CM000671.1:g.75435635G>A	GRCh37
NC_000009.10:g.74625455G>A	NCBI36
NG_008213.1:g.303919G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1764-123G>A MANE Select	ENSP00000297784.6:n.1764-123G>A
ENST00000644967.1:c.*204-123G>A	ENSP00000496159.1:n.*204-123G>A
ENST00000645053.1:c.1258-6150G>A	ENSP00000493838.1:n.1258-6150G>A
ENST00000645208.2:c.1764-123G>A	ENSP00000494684.1:n.1764-123G>A
ENST00000645773.1:c.1638-123G>A	ENSP00000493698.1:n.1638-123G>A
ENST00000645787.1:n.1907-123G>A
ENST00000646619.1:c.1326-123G>A	ENSP00000493726.1:n.1326-123G>A
ENST00000651183.1:c.1326-123G>A	ENSP00000498723.1:n.1326-123G>A
ENST00000297784.9:c.1764-123G>A	ENSP00000297784.5:n.1764-123G>A
ENST00000340019.4:c.1764-123G>A	ENSP00000341433.3:n.1764-123G>A
ENST00000469455.1:n.245-123G>A
ENST00000486417.5:n.662-123G>A
NM_138691.2:c.1764-123G>A	NP_619636.2:n.1764-123G>A
XM_011518213.1:c.2352-123G>A	XP_011516515.1:n.2352-123G>A
XM_017014256.1:c.1767-123G>A	XP_016869745.1:n.1767-123G>A
NM_138691.3:c.1764-123G>A MANE Select	NP_619636.2:n.1764-123G>A