Canonical Allele Identifier: CA373505798

Gene: TMC1

Linked Data

• gnomAD v4: 9-72791900-G-A
• MyVariant Identifiers: chr9:g.75406816G>A (hg19) ; chr9:g.72791900G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791900G>A , CM000671.2:g.72791900G>A	GRCh38
NC_000009.11:g.75406816G>A , CM000671.1:g.75406816G>A	GRCh37
NC_000009.10:g.74596636G>A	NCBI36
NG_008213.1:g.275100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1239G>A MANE Select	ENSP00000297784.6:p.Met413Ile
ENST00000644967.1:c.801G>A	ENSP00000496159.1:p.Met267Ile
ENST00000645053.1:c.801G>A	ENSP00000493838.1:p.Met267Ile
ENST00000645208.2:c.1239G>A	ENSP00000494684.1:p.Met413Ile
ENST00000645773.1:c.1113G>A	ENSP00000493698.1:p.Met371Ile
ENST00000645787.1:n.1279G>A
ENST00000646619.1:c.801G>A	ENSP00000493726.1:p.Met267Ile
ENST00000650689.1:n.1537G>A
ENST00000651183.1:c.801G>A	ENSP00000498723.1:p.Met267Ile
ENST00000297784.9:c.1239G>A	ENSP00000297784.5:p.Met413Ile
ENST00000340019.4:c.1239G>A	ENSP00000341433.3:p.Met413Ile
NM_138691.2:c.1239G>A	NP_619636.2:p.Met413Ile
XM_011518213.1:c.1827G>A	XP_011516515.1:p.Met609Ile
XM_017014256.1:c.1242G>A	XP_016869745.1:p.Met414Ile
NM_138691.3:c.1239G>A MANE Select	NP_619636.2:p.Met413Ile