Canonical Allele Identifier: CA2690286142

Gene: TMC1

Linked Data

• gnomAD v4: 9-72694480-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694480T>A , CM000671.2:g.72694480T>A	GRCh38
NC_000009.11:g.75309396T>A , CM000671.1:g.75309396T>A	GRCh37
NC_000009.10:g.74499216T>A	NCBI36
NG_008213.1:g.177680T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.65-63T>A MANE Select	ENSP00000297784.6:n.65-63T>A
ENST00000644967.1:c.-248-63T>A	ENSP00000496159.1:n.-248-63T>A
ENST00000645053.1:c.-248-63T>A	ENSP00000493838.1:n.-248-63T>A
ENST00000645208.2:c.65-63T>A	ENSP00000494684.1:n.65-63T>A
ENST00000645773.1:c.65-63T>A	ENSP00000493698.1:n.65-63T>A
ENST00000645787.1:n.93-51T>A
ENST00000646244.1:n.515-63T>A
ENST00000646619.1:c.-248-63T>A	ENSP00000493726.1:n.-248-63T>A
ENST00000650689.1:n.489-63T>A
ENST00000651183.1:c.-248-63T>A	ENSP00000498723.1:n.-248-63T>A
ENST00000297784.9:c.65-63T>A	ENSP00000297784.5:n.65-63T>A
ENST00000340019.4:c.65-63T>A	ENSP00000341433.3:n.65-63T>A
NM_138691.2:c.65-63T>A	NP_619636.2:n.65-63T>A
XM_011518213.1:c.653-63T>A	XP_011516515.1:n.653-63T>A
XM_017014256.1:c.68-63T>A	XP_016869745.1:n.68-63T>A
NM_138691.3:c.65-63T>A MANE Select	NP_619636.2:n.65-63T>A