Canonical Allele Identifier: CA373667772

Gene: TMC1

Linked Data

• gnomAD v3: 9-72805503-A-T
• gnomAD v4: 9-72805503-A-T
• MyVariant Identifiers: chr9:g.75420419A>T (hg19) ; chr9:g.72805503A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805503A>T , CM000671.2:g.72805503A>T	GRCh38
NC_000009.11:g.75420419A>T , CM000671.1:g.75420419A>T	GRCh37
NC_000009.10:g.74610239A>T	NCBI36
NG_008213.1:g.288703A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1688A>T MANE Select	ENSP00000297784.6:p.Tyr563Phe
ENST00000644967.1:c.1250A>T	ENSP00000496159.1:p.Tyr417Phe
ENST00000645053.1:c.1250A>T	ENSP00000493838.1:p.Tyr417Phe
ENST00000645208.2:c.1688A>T	ENSP00000494684.1:p.Tyr563Phe
ENST00000645773.1:c.1562A>T	ENSP00000493698.1:p.Tyr521Phe
ENST00000645787.1:n.1831A>T
ENST00000646619.1:c.1250A>T	ENSP00000493726.1:p.Tyr417Phe
ENST00000651183.1:c.1250A>T	ENSP00000498723.1:p.Tyr417Phe
ENST00000297784.9:c.1688A>T	ENSP00000297784.5:p.Tyr563Phe
ENST00000340019.4:c.1688A>T	ENSP00000341433.3:p.Tyr563Phe
ENST00000486417.5:n.312A>T
NM_138691.2:c.1688A>T	NP_619636.2:p.Tyr563Phe
XM_011518213.1:c.2276A>T	XP_011516515.1:p.Tyr759Phe
XM_017014256.1:c.1691A>T	XP_016869745.1:p.Tyr564Phe
NM_138691.3:c.1688A>T MANE Select	NP_619636.2:p.Tyr563Phe