Canonical Allele Identifier: CA465492641

Gene: TMC1

Linked Data

• gnomAD v4: 9-72820908-C-T
• MyVariant Identifiers: chr9:g.75435824C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820908C>T , CM000671.2:g.72820908C>T	GRCh38
NC_000009.11:g.75435824C>T , CM000671.1:g.75435824C>T	GRCh37
NC_000009.10:g.74625644C>T	NCBI36
NG_008213.1:g.304108C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1830C>T MANE Select	ENSP00000297784.6:p.Tyr610=
ENST00000644967.1:c.*270C>T	ENSP00000496159.1:n.*270C>T
ENST00000645053.1:c.1258-5961C>T	ENSP00000493838.1:n.1258-5961C>T
ENST00000645208.2:c.1830C>T	ENSP00000494684.1:p.Tyr610=
ENST00000645773.1:c.1704C>T	ENSP00000493698.1:p.Tyr568=
ENST00000645787.1:n.1973C>T
ENST00000646619.1:c.1392C>T	ENSP00000493726.1:p.Tyr464=
ENST00000651183.1:c.1392C>T	ENSP00000498723.1:p.Tyr464=
ENST00000297784.9:c.1830C>T	ENSP00000297784.5:p.Tyr610=
ENST00000340019.4:c.1830C>T	ENSP00000341433.3:p.Tyr610=
ENST00000469455.1:n.311C>T
ENST00000486417.5:n.728C>T
NM_138691.2:c.1830C>T	NP_619636.2:p.Tyr610=
XM_011518213.1:c.2418C>T	XP_011516515.1:p.Tyr806=
XM_017014256.1:c.1833C>T	XP_016869745.1:p.Tyr611=
NM_138691.3:c.1830C>T MANE Select	NP_619636.2:p.Tyr610=