Canonical Allele Identifier: CA193300338

Gene: TMC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789236C>T , CM000671.2:g.72789236C>T	GRCh38
NC_000009.11:g.75404152C>T , CM000671.1:g.75404152C>T	GRCh37
NC_000009.10:g.74593972C>T	NCBI36
NG_008213.1:g.272436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1143C>T MANE Select	ENSP00000297784.6:p.Tyr381=
ENST00000644967.1:c.705C>T	ENSP00000496159.1:p.Tyr235=
ENST00000645053.1:c.705C>T	ENSP00000493838.1:p.Tyr235=
ENST00000645208.2:c.1143C>T	ENSP00000494684.1:p.Tyr381=
ENST00000645773.1:c.1017C>T	ENSP00000493698.1:p.Tyr339=
ENST00000645787.1:n.1183C>T
ENST00000646619.1:c.705C>T	ENSP00000493726.1:p.Tyr235=
ENST00000650689.1:n.1441C>T
ENST00000651183.1:c.705C>T	ENSP00000498723.1:p.Tyr235=
ENST00000297784.9:c.1143C>T	ENSP00000297784.5:p.Tyr381=
ENST00000340019.4:c.1143C>T	ENSP00000341433.3:p.Tyr381=
NM_138691.2:c.1143C>T	NP_619636.2:p.Tyr381=
XM_011518213.1:c.1731C>T	XP_011516515.1:p.Tyr577=
XM_017014256.1:c.1146C>T	XP_016869745.1:p.Tyr382=
NM_138691.3:c.1143C>T MANE Select	NP_619636.2:p.Tyr381=