Canonical Allele Identifier: CA373669739
Gene: TMC1 HGNC NCBI

Linked Data

dbSNP Id: rs1828859781
gnomAD v4: 9-72820939-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72820939G>A , CM000671.2:g.72820939G>A GRCh38
NC_000009.11:g.75435855G>A , CM000671.1:g.75435855G>A GRCh37
NC_000009.10:g.74625675G>A NCBI36
NG_008213.1:g.304139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1861G>A MANE Select ENSP00000297784.6:p.Val621Ile
ENST00000644967.1:c.*301G>A ENSP00000496159.1:n.*301G>A
ENST00000645053.1:c.1258-5930G>A ENSP00000493838.1:n.1258-5930G>A
ENST00000645208.2:c.1861G>A ENSP00000494684.1:p.Val621Ile
ENST00000645773.1:c.1735G>A ENSP00000493698.1:p.Val579Ile
ENST00000645787.1:n.2004G>A
ENST00000646619.1:c.1423G>A ENSP00000493726.1:p.Val475Ile
ENST00000651183.1:c.1423G>A ENSP00000498723.1:p.Val475Ile
ENST00000297784.9:c.1861G>A ENSP00000297784.5:p.Val621Ile
ENST00000340019.4:c.1861G>A ENSP00000341433.3:p.Val621Ile
ENST00000469455.1:n.342G>A
ENST00000486417.5:n.759G>A
NM_138691.2:c.1861G>A NP_619636.2:p.Val621Ile
XM_011518213.1:c.2449G>A XP_011516515.1:p.Val817Ile
XM_017014256.1:c.1864G>A XP_016869745.1:p.Val622Ile
NM_138691.3:c.1861G>A MANE Select NP_619636.2:p.Val621Ile