Canonical Allele Identifier: CA373667785

Gene: TMC1

Linked Data

• gnomAD v3: 9-72805509-A-T
• gnomAD v4: 9-72805509-A-T
• MyVariant Identifiers: chr9:g.75420425A>T (hg19) ; chr9:g.72805509A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805509A>T , CM000671.2:g.72805509A>T	GRCh38
NC_000009.11:g.75420425A>T , CM000671.1:g.75420425A>T	GRCh37
NC_000009.10:g.74610245A>T	NCBI36
NG_008213.1:g.288709A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1694A>T MANE Select	ENSP00000297784.6:p.Tyr565Phe
ENST00000644967.1:c.1256A>T	ENSP00000496159.1:p.Tyr419Phe
ENST00000645053.1:c.1256A>T	ENSP00000493838.1:p.Tyr419Phe
ENST00000645208.2:c.1694A>T	ENSP00000494684.1:p.Tyr565Phe
ENST00000645773.1:c.1568A>T	ENSP00000493698.1:p.Tyr523Phe
ENST00000645787.1:n.1837A>T
ENST00000646619.1:c.1256A>T	ENSP00000493726.1:p.Tyr419Phe
ENST00000651183.1:c.1256A>T	ENSP00000498723.1:p.Tyr419Phe
ENST00000297784.9:c.1694A>T	ENSP00000297784.5:p.Tyr565Phe
ENST00000340019.4:c.1694A>T	ENSP00000341433.3:p.Tyr565Phe
ENST00000486417.5:n.318A>T
NM_138691.2:c.1694A>T	NP_619636.2:p.Tyr565Phe
XM_011518213.1:c.2282A>T	XP_011516515.1:p.Tyr761Phe
XM_017014256.1:c.1697A>T	XP_016869745.1:p.Tyr566Phe
NM_138691.3:c.1694A>T MANE Select	NP_619636.2:p.Tyr565Phe