Canonical Allele Identifier: CA465188555

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75309524C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694608C>A , CM000671.2:g.72694608C>A	GRCh38
NC_000009.11:g.75309524C>A , CM000671.1:g.75309524C>A	GRCh37
NC_000009.10:g.74499344C>A	NCBI36
NG_008213.1:g.177808C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.130C>A MANE Select	ENSP00000297784.6:p.Arg44=
ENST00000644967.1:c.-183C>A	ENSP00000496159.1:n.-183C>A
ENST00000645053.1:c.-183C>A	ENSP00000493838.1:n.-183C>A
ENST00000645208.2:c.130C>A	ENSP00000494684.1:p.Arg44=
ENST00000645773.1:c.130C>A	ENSP00000493698.1:p.Arg44=
ENST00000645787.1:n.170C>A
ENST00000646244.1:n.580C>A
ENST00000646619.1:c.-183C>A	ENSP00000493726.1:n.-183C>A
ENST00000650689.1:n.554C>A
ENST00000651183.1:c.-183C>A	ENSP00000498723.1:n.-183C>A
ENST00000297784.9:c.130C>A	ENSP00000297784.5:p.Arg44=
ENST00000340019.4:c.130C>A	ENSP00000341433.3:p.Arg44=
NM_138691.2:c.130C>A	NP_619636.2:p.Arg44=
XM_011518213.1:c.718C>A	XP_011516515.1:p.Arg240=
XM_017014256.1:c.133C>A	XP_016869745.1:p.Arg45=
NM_138691.3:c.130C>A MANE Select	NP_619636.2:p.Arg44=