Canonical Allele Identifier: CA3018672567

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72616381A>G , CM000671.2:g.72616381A>G	GRCh38
NC_000009.11:g.75231297A>G , CM000671.1:g.75231297A>G	GRCh37
NC_000009.10:g.74421117A>G	NCBI36
NG_008213.1:g.99581A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138691.3:c.-292A>G MANE Select	NP_619636.2:n.-292A>G
ENST00000297784.10:c.-292A>G MANE Select	ENSP00000297784.6:n.-292A>G
NM_138691.2:c.-292A>G	NP_619636.2:n.-292A>G
ENST00000297784.9:c.-292A>G	ENSP00000297784.5:n.-292A>G
ENST00000340019.4:c.-292A>G	ENSP00000341433.3:n.-292A>G
ENST00000497073.1:n.262A>G
ENST00000643676.1:n.320A>G
ENST00000645053.1:c.-536A>G	ENSP00000493838.1:n.-536A>G
ENST00000645208.2:c.-292A>G	ENSP00000494684.1:n.-292A>G
ENST00000645773.1:c.-292A>G	ENSP00000493698.1:n.-292A>G
ENST00000646244.1:n.227A>G
ENST00000650689.1:n.201A>G
ENST00000651183.1:c.-393A>G	ENSP00000498723.1:n.-393A>G
ENST00000651743.1:n.251A>G
XM_011518213.1:c.415-8334A>G	XP_011516515.1:n.415-8334A>G
XM_017014256.1:c.-78A>G	XP_016869745.1:n.-78A>G