Canonical Allele Identifier: CA373507748

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72792320C>G , CM000671.2:g.72792320C>G	GRCh38
NC_000009.11:g.75407236C>G , CM000671.1:g.75407236C>G	GRCh37
NC_000009.10:g.74597056C>G	NCBI36
NG_008213.1:g.275520C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1534C>G MANE Select	ENSP00000297784.6:p.Arg512Gly
ENST00000644967.1:c.1096C>G	ENSP00000496159.1:p.Arg366Gly
ENST00000645053.1:c.1096C>G	ENSP00000493838.1:p.Arg366Gly
ENST00000645208.2:c.1534C>G	ENSP00000494684.1:p.Arg512Gly
ENST00000645773.1:c.1408C>G	ENSP00000493698.1:p.Arg470Gly
ENST00000645787.1:n.1574C>G
ENST00000646619.1:c.1096C>G	ENSP00000493726.1:p.Arg366Gly
ENST00000650689.1:n.1832C>G
ENST00000651183.1:c.1096C>G	ENSP00000498723.1:p.Arg366Gly
ENST00000297784.9:c.1534C>G	ENSP00000297784.5:p.Arg512Gly
ENST00000340019.4:c.1534C>G	ENSP00000341433.3:p.Arg512Gly
ENST00000486417.5:n.158C>G
NM_138691.2:c.1534C>G	NP_619636.2:p.Arg512Gly
XM_011518213.1:c.2122C>G	XP_011516515.1:p.Arg708Gly
XM_017014256.1:c.1537C>G	XP_016869745.1:p.Arg513Gly
NM_138691.3:c.1534C>G MANE Select	NP_619636.2:p.Arg512Gly