Canonical Allele Identifier: CA373669600

Gene: TMC1

Linked Data

• gnomAD v4: 9-72820877-T-A
• MyVariant Identifiers: chr9:g.75435793T>A (hg19) ; chr9:g.72820877T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820877T>A , CM000671.2:g.72820877T>A	GRCh38
NC_000009.11:g.75435793T>A , CM000671.1:g.75435793T>A	GRCh37
NC_000009.10:g.74625613T>A	NCBI36
NG_008213.1:g.304077T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1799T>A MANE Select	ENSP00000297784.6:p.Ile600Asn
ENST00000644967.1:c.*239T>A	ENSP00000496159.1:n.*239T>A
ENST00000645053.1:c.1258-5992T>A	ENSP00000493838.1:n.1258-5992T>A
ENST00000645208.2:c.1799T>A	ENSP00000494684.1:p.Ile600Asn
ENST00000645773.1:c.1673T>A	ENSP00000493698.1:p.Ile558Asn
ENST00000645787.1:n.1942T>A
ENST00000646619.1:c.1361T>A	ENSP00000493726.1:p.Ile454Asn
ENST00000651183.1:c.1361T>A	ENSP00000498723.1:p.Ile454Asn
ENST00000297784.9:c.1799T>A	ENSP00000297784.5:p.Ile600Asn
ENST00000340019.4:c.1799T>A	ENSP00000341433.3:p.Ile600Asn
ENST00000469455.1:n.280T>A
ENST00000486417.5:n.697T>A
NM_138691.2:c.1799T>A	NP_619636.2:p.Ile600Asn
XM_011518213.1:c.2387T>A	XP_011516515.1:p.Ile796Asn
XM_017014256.1:c.1802T>A	XP_016869745.1:p.Ile601Asn
NM_138691.3:c.1799T>A MANE Select	NP_619636.2:p.Ile600Asn