Canonical Allele Identifier: CA2690284711
Gene: TMC1 HGNC NCBI

Linked Data

gnomAD v4: 9-72577906-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72577906G>A , CM000671.2:g.72577906G>A GRCh38
NC_000009.11:g.75192822G>A , CM000671.1:g.75192822G>A GRCh37
NC_000009.10:g.74382642G>A NCBI36
NG_008213.1:g.61106G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.-423G>A MANE Select ENSP00000297784.6:n.-423G>A
ENST00000643676.1:n.307-38462G>A
ENST00000645208.2:c.-423G>A ENSP00000494684.1:n.-423G>A
ENST00000650689.1:n.70G>A
ENST00000651183.1:c.-524G>A ENSP00000498723.1:n.-524G>A
ENST00000651743.1:n.120G>A
ENST00000297784.9:c.-423G>A ENSP00000297784.5:n.-423G>A
ENST00000497073.1:n.119G>A
NM_138691.2:c.-423G>A NP_619636.2:n.-423G>A
NM_138691.3:c.-423G>A MANE Select NP_619636.2:n.-423G>A