Canonical Allele Identifier: CA373669793

Gene: TMC1

Linked Data

• dbSNP Id: rs1302396616
• gnomAD v2: 9-75435880-C-A
• gnomAD v4: 9-72820964-C-A
• MyVariant Identifiers: chr9:g.75435880C>A (hg19) ; chr9:g.72820964C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820964C>A , CM000671.2:g.72820964C>A	GRCh38
NC_000009.11:g.75435880C>A , CM000671.1:g.75435880C>A	GRCh37
NC_000009.10:g.74625700C>A	NCBI36
NG_008213.1:g.304164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1886C>A MANE Select	ENSP00000297784.6:p.Ala629Asp
ENST00000644967.1:c.*326C>A	ENSP00000496159.1:n.*326C>A
ENST00000645053.1:c.1258-5905C>A	ENSP00000493838.1:n.1258-5905C>A
ENST00000645208.2:c.1886C>A	ENSP00000494684.1:p.Ala629Asp
ENST00000645773.1:c.1760C>A	ENSP00000493698.1:p.Ala587Asp
ENST00000645787.1:n.2029C>A
ENST00000646619.1:c.1448C>A	ENSP00000493726.1:p.Ala483Asp
ENST00000651183.1:c.1448C>A	ENSP00000498723.1:p.Ala483Asp
ENST00000297784.9:c.1886C>A	ENSP00000297784.5:p.Ala629Asp
ENST00000340019.4:c.1886C>A	ENSP00000341433.3:p.Ala629Asp
ENST00000469455.1:n.367C>A
ENST00000486417.5:n.784C>A
NM_138691.2:c.1886C>A	NP_619636.2:p.Ala629Asp
XM_011518213.1:c.2474C>A	XP_011516515.1:p.Ala825Asp
XM_017014256.1:c.1889C>A	XP_016869745.1:p.Ala630Asp
NM_138691.3:c.1886C>A MANE Select	NP_619636.2:p.Ala629Asp