Canonical Allele Identifier: CA2690288086

Gene: TMC1

Linked Data

• gnomAD v4: 9-72788283-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72788283C>A , CM000671.2:g.72788283C>A	GRCh38
NC_000009.11:g.75403199C>A , CM000671.1:g.75403199C>A	GRCh37
NC_000009.10:g.74593019C>A	NCBI36
NG_008213.1:g.271483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.885-56C>A MANE Select	ENSP00000297784.6:n.885-56C>A
ENST00000644967.1:c.447-56C>A	ENSP00000496159.1:n.447-56C>A
ENST00000645053.1:c.447-56C>A	ENSP00000493838.1:n.447-56C>A
ENST00000645208.2:c.885-56C>A	ENSP00000494684.1:n.885-56C>A
ENST00000645773.1:c.759-56C>A	ENSP00000493698.1:n.759-56C>A
ENST00000645787.1:n.925-56C>A
ENST00000646619.1:c.447-56C>A	ENSP00000493726.1:n.447-56C>A
ENST00000650689.1:n.1183-56C>A
ENST00000651183.1:c.447-56C>A	ENSP00000498723.1:n.447-56C>A
ENST00000297784.9:c.885-56C>A	ENSP00000297784.5:n.885-56C>A
ENST00000340019.4:c.885-56C>A	ENSP00000341433.3:n.885-56C>A
NM_138691.2:c.885-56C>A	NP_619636.2:n.885-56C>A
XM_011518213.1:c.1473-56C>A	XP_011516515.1:n.1473-56C>A
XM_017014256.1:c.888-56C>A	XP_016869745.1:n.888-56C>A
NM_138691.3:c.885-56C>A MANE Select	NP_619636.2:n.885-56C>A