Canonical Allele Identifier: CA465492730

Gene: TMC1

Linked Data

• gnomAD v4: 9-72821010-C-A
• MyVariant Identifiers: chr9:g.75435926C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821010C>A , CM000671.2:g.72821010C>A	GRCh38
NC_000009.11:g.75435926C>A , CM000671.1:g.75435926C>A	GRCh37
NC_000009.10:g.74625746C>A	NCBI36
NG_008213.1:g.304210C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1932C>A MANE Select	ENSP00000297784.6:p.Leu644=
ENST00000644967.1:c.*372C>A	ENSP00000496159.1:n.*372C>A
ENST00000645053.1:c.1258-5859C>A	ENSP00000493838.1:n.1258-5859C>A
ENST00000645208.2:c.1932C>A	ENSP00000494684.1:p.Leu644=
ENST00000645773.1:c.1806C>A	ENSP00000493698.1:p.Leu602=
ENST00000645787.1:n.2075C>A
ENST00000646619.1:c.1494C>A	ENSP00000493726.1:p.Leu498=
ENST00000651183.1:c.1494C>A	ENSP00000498723.1:p.Leu498=
ENST00000297784.9:c.1932C>A	ENSP00000297784.5:p.Leu644=
ENST00000340019.4:c.1932C>A	ENSP00000341433.3:p.Leu644=
ENST00000469455.1:n.413C>A
ENST00000486417.5:n.830C>A
NM_138691.2:c.1932C>A	NP_619636.2:p.Leu644=
XM_011518213.1:c.2520C>A	XP_011516515.1:p.Leu840=
XM_017014256.1:c.1935C>A	XP_016869745.1:p.Leu645=
NM_138691.3:c.1932C>A MANE Select	NP_619636.2:p.Leu644=