Canonical Allele Identifier: CA465492664

Gene: TMC1

Linked Data

• gnomAD v4: 9-72820953-G-A
• MyVariant Identifiers: chr9:g.75435869G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820953G>A , CM000671.2:g.72820953G>A	GRCh38
NC_000009.11:g.75435869G>A , CM000671.1:g.75435869G>A	GRCh37
NC_000009.10:g.74625689G>A	NCBI36
NG_008213.1:g.304153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1875G>A MANE Select	ENSP00000297784.6:p.Arg625=
ENST00000644967.1:c.*315G>A	ENSP00000496159.1:n.*315G>A
ENST00000645053.1:c.1258-5916G>A	ENSP00000493838.1:n.1258-5916G>A
ENST00000645208.2:c.1875G>A	ENSP00000494684.1:p.Arg625=
ENST00000645773.1:c.1749G>A	ENSP00000493698.1:p.Arg583=
ENST00000645787.1:n.2018G>A
ENST00000646619.1:c.1437G>A	ENSP00000493726.1:p.Arg479=
ENST00000651183.1:c.1437G>A	ENSP00000498723.1:p.Arg479=
ENST00000297784.9:c.1875G>A	ENSP00000297784.5:p.Arg625=
ENST00000340019.4:c.1875G>A	ENSP00000341433.3:p.Arg625=
ENST00000469455.1:n.356G>A
ENST00000486417.5:n.773G>A
NM_138691.2:c.1875G>A	NP_619636.2:p.Arg625=
XM_011518213.1:c.2463G>A	XP_011516515.1:p.Arg821=
XM_017014256.1:c.1878G>A	XP_016869745.1:p.Arg626=
NM_138691.3:c.1875G>A MANE Select	NP_619636.2:p.Arg625=