Canonical Allele Identifier: CA2690284780
Gene: TMC1 HGNC NCBI

Linked Data

gnomAD v4: 9-72577989-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72577989T>A , CM000671.2:g.72577989T>A GRCh38
NC_000009.11:g.75192905T>A , CM000671.1:g.75192905T>A GRCh37
NC_000009.10:g.74382725T>A NCBI36
NG_008213.1:g.61189T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.-340T>A MANE Select ENSP00000297784.6:n.-340T>A
ENST00000643676.1:n.307-38379T>A
ENST00000645053.1:c.-584T>A ENSP00000493838.1:n.-584T>A
ENST00000645208.2:c.-340T>A ENSP00000494684.1:n.-340T>A
ENST00000645773.1:c.-340T>A ENSP00000493698.1:n.-340T>A
ENST00000646244.1:n.70T>A
ENST00000650689.1:n.153T>A
ENST00000651183.1:c.-441T>A ENSP00000498723.1:n.-441T>A
ENST00000651743.1:n.203T>A
ENST00000297784.9:c.-340T>A ENSP00000297784.5:n.-340T>A
ENST00000497073.1:n.202T>A
NM_138691.2:c.-340T>A NP_619636.2:n.-340T>A
NM_138691.3:c.-340T>A MANE Select NP_619636.2:n.-340T>A