Canonical Allele Identifier: CA5081655

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72740129A>C , CM000671.2:g.72740129A>C	GRCh38
NC_000009.11:g.75355045A>C , CM000671.1:g.75355045A>C	GRCh37
NC_000009.10:g.74544865A>C	NCBI36
NG_008213.1:g.223329A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138691.3:c.373A>C MANE Select	NP_619636.2:p.Lys125Gln
ENST00000297784.10:c.373A>C MANE Select	ENSP00000297784.6:p.Lys125Gln
NM_138691.2:c.373A>C	NP_619636.2:p.Lys125Gln
ENST00000297784.9:c.373A>C	ENSP00000297784.5:p.Lys125Gln
ENST00000340019.4:c.373A>C	ENSP00000341433.3:p.Lys125Gln
ENST00000644967.1:c.-66A>C	ENSP00000496159.1:n.-66A>C
ENST00000645053.1:c.-66A>C	ENSP00000493838.1:n.-66A>C
ENST00000645208.2:c.373A>C	ENSP00000494684.1:p.Lys125Gln
ENST00000645773.1:c.247A>C	ENSP00000493698.1:p.Lys83Gln
ENST00000645787.1:n.413A>C
ENST00000646619.1:c.-66A>C	ENSP00000493726.1:n.-66A>C
ENST00000650689.1:n.671A>C
ENST00000651183.1:c.-66A>C	ENSP00000498723.1:n.-66A>C
XM_011518213.1:c.961A>C	XP_011516515.1:p.Lys321Gln
XM_017014256.1:c.376A>C	XP_016869745.1:p.Lys126Gln