Canonical Allele Identifier: CA3018672559

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72616360A>G , CM000671.2:g.72616360A>G	GRCh38
NC_000009.11:g.75231276A>G , CM000671.1:g.75231276A>G	GRCh37
NC_000009.10:g.74421096A>G	NCBI36
NG_008213.1:g.99560A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138691.3:c.-305-8A>G MANE Select	NP_619636.2:n.-305-8A>G
ENST00000297784.10:c.-305-8A>G MANE Select	ENSP00000297784.6:n.-305-8A>G
NM_138691.2:c.-305-8A>G	NP_619636.2:n.-305-8A>G
ENST00000297784.9:c.-305-8A>G	ENSP00000297784.5:n.-305-8A>G
ENST00000340019.4:c.-313A>G	ENSP00000341433.3:n.-313A>G
ENST00000497073.1:n.249-8A>G
ENST00000643676.1:n.307-8A>G
ENST00000645053.1:c.-549-8A>G	ENSP00000493838.1:n.-549-8A>G
ENST00000645208.2:c.-305-8A>G	ENSP00000494684.1:n.-305-8A>G
ENST00000645773.1:c.-305-8A>G	ENSP00000493698.1:n.-305-8A>G
ENST00000646244.1:n.214-8A>G
ENST00000650689.1:n.188-8A>G
ENST00000651183.1:c.-406-8A>G	ENSP00000498723.1:n.-406-8A>G
ENST00000651743.1:n.238-8A>G
XM_011518213.1:c.415-8355A>G	XP_011516515.1:n.415-8355A>G
XM_017014256.1:c.-91-8A>G	XP_016869745.1:n.-91-8A>G