Canonical Allele Identifier: CA5082090

Gene: TMC1

Linked Data

• dbSNP Id: rs774290221
• ExAC: 9:75435885 A / G
• gnomAD v2: 9-75435885-A-G
• MyVariant Identifiers: chr9:g.75435885A>G (hg19) ; chr9:g.72820969A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820969A>G , CM000671.2:g.72820969A>G	GRCh38
NC_000009.11:g.75435885A>G , CM000671.1:g.75435885A>G	GRCh37
NC_000009.10:g.74625705A>G	NCBI36
NG_008213.1:g.304169A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1891A>G MANE Select	ENSP00000297784.6:p.Arg631Gly
ENST00000644967.1:c.*331A>G	ENSP00000496159.1:n.*331A>G
ENST00000645053.1:c.1258-5900A>G	ENSP00000493838.1:n.1258-5900A>G
ENST00000645208.2:c.1891A>G	ENSP00000494684.1:p.Arg631Gly
ENST00000645773.1:c.1765A>G	ENSP00000493698.1:p.Arg589Gly
ENST00000645787.1:n.2034A>G
ENST00000646619.1:c.1453A>G	ENSP00000493726.1:p.Arg485Gly
ENST00000651183.1:c.1453A>G	ENSP00000498723.1:p.Arg485Gly
ENST00000297784.9:c.1891A>G	ENSP00000297784.5:p.Arg631Gly
ENST00000340019.4:c.1891A>G	ENSP00000341433.3:p.Arg631Gly
ENST00000469455.1:n.372A>G
ENST00000486417.5:n.789A>G
NM_138691.2:c.1891A>G	NP_619636.2:p.Arg631Gly
XM_011518213.1:c.2479A>G	XP_011516515.1:p.Arg827Gly
XM_017014256.1:c.1894A>G	XP_016869745.1:p.Arg632Gly
NM_138691.3:c.1891A>G MANE Select	NP_619636.2:p.Arg631Gly