Canonical Allele Identifier: CA373505098

Gene: TMC1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789301G>A , CM000671.2:g.72789301G>A	GRCh38
NC_000009.11:g.75404217G>A , CM000671.1:g.75404217G>A	GRCh37
NC_000009.10:g.74594037G>A	NCBI36
NG_008213.1:g.272501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1208G>A MANE Select	ENSP00000297784.6:p.Trp403Ter
ENST00000644967.1:c.770G>A	ENSP00000496159.1:p.Trp257Ter
ENST00000645053.1:c.770G>A	ENSP00000493838.1:p.Trp257Ter
ENST00000645208.2:c.1208G>A	ENSP00000494684.1:p.Trp403Ter
ENST00000645773.1:c.1082G>A	ENSP00000493698.1:p.Trp361Ter
ENST00000645787.1:n.1248G>A
ENST00000646619.1:c.770G>A	ENSP00000493726.1:p.Trp257Ter
ENST00000650689.1:n.1506G>A
ENST00000651183.1:c.770G>A	ENSP00000498723.1:p.Trp257Ter
ENST00000297784.9:c.1208G>A	ENSP00000297784.5:p.Trp403Ter
ENST00000340019.4:c.1208G>A	ENSP00000341433.3:p.Trp403Ter
NM_138691.2:c.1208G>A	NP_619636.2:p.Trp403Ter
XM_011518213.1:c.1796G>A	XP_011516515.1:p.Trp599Ter
XM_017014256.1:c.1211G>A	XP_016869745.1:p.Trp404Ter
NM_138691.3:c.1208G>A MANE Select	NP_619636.2:p.Trp403Ter