Canonical Allele Identifier: CA5082085

Gene: TMC1

Linked Data

• dbSNP Id: rs747820998
• ExAC: 9:75435851 C / T
• gnomAD v2: 9-75435851-C-T
• MyVariant Identifiers: chr9:g.75435851C>T (hg19) ; chr9:g.72820935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820935C>T , CM000671.2:g.72820935C>T	GRCh38
NC_000009.11:g.75435851C>T , CM000671.1:g.75435851C>T	GRCh37
NC_000009.10:g.74625671C>T	NCBI36
NG_008213.1:g.304135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1857C>T MANE Select	ENSP00000297784.6:p.Cys619=
ENST00000644967.1:c.*297C>T	ENSP00000496159.1:n.*297C>T
ENST00000645053.1:c.1258-5934C>T	ENSP00000493838.1:n.1258-5934C>T
ENST00000645208.2:c.1857C>T	ENSP00000494684.1:p.Cys619=
ENST00000645773.1:c.1731C>T	ENSP00000493698.1:p.Cys577=
ENST00000645787.1:n.2000C>T
ENST00000646619.1:c.1419C>T	ENSP00000493726.1:p.Cys473=
ENST00000651183.1:c.1419C>T	ENSP00000498723.1:p.Cys473=
ENST00000297784.9:c.1857C>T	ENSP00000297784.5:p.Cys619=
ENST00000340019.4:c.1857C>T	ENSP00000341433.3:p.Cys619=
ENST00000469455.1:n.338C>T
ENST00000486417.5:n.755C>T
NM_138691.2:c.1857C>T	NP_619636.2:p.Cys619=
XM_011518213.1:c.2445C>T	XP_011516515.1:p.Cys815=
XM_017014256.1:c.1860C>T	XP_016869745.1:p.Cys620=
NM_138691.3:c.1857C>T MANE Select	NP_619636.2:p.Cys619=