Canonical Allele Identifier: CA588650266

Gene: TMC1

Linked Data

• dbSNP Id: rs1037114684
• gnomAD v2: 9-75436136-G-T
• MyVariant Identifiers: chr9:g.75436136G>T (hg19) ; chr9:g.72821220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821220G>T , CM000671.2:g.72821220G>T	GRCh38
NC_000009.11:g.75436136G>T , CM000671.1:g.75436136G>T	GRCh37
NC_000009.10:g.74625956G>T	NCBI36
NG_008213.1:g.304420G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+139G>T MANE Select	ENSP00000297784.6:n.2003+139G>T
ENST00000644967.1:c.*443+139G>T	ENSP00000496159.1:n.*443+139G>T
ENST00000645053.1:c.1258-5649G>T	ENSP00000493838.1:n.1258-5649G>T
ENST00000645208.2:c.2003+139G>T	ENSP00000494684.1:n.2003+139G>T
ENST00000645773.1:c.1877+139G>T	ENSP00000493698.1:n.1877+139G>T
ENST00000645787.1:n.2146+139G>T
ENST00000646619.1:c.1565+139G>T	ENSP00000493726.1:n.1565+139G>T
ENST00000651183.1:c.1565+139G>T	ENSP00000498723.1:n.1565+139G>T
ENST00000297784.9:c.2003+139G>T	ENSP00000297784.5:n.2003+139G>T
ENST00000340019.4:c.2003+139G>T	ENSP00000341433.3:n.2003+139G>T
ENST00000469455.1:n.484+139G>T
ENST00000486417.5:n.901+139G>T
NM_138691.2:c.2003+139G>T	NP_619636.2:n.2003+139G>T
XM_011518213.1:c.2591+139G>T	XP_011516515.1:n.2591+139G>T
XM_017014256.1:c.2006+139G>T	XP_016869745.1:n.2006+139G>T
NM_138691.3:c.2003+139G>T MANE Select	NP_619636.2:n.2003+139G>T