Canonical Allele Identifier: CA465188501

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75309509A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694593A>C , CM000671.2:g.72694593A>C	GRCh38
NC_000009.11:g.75309509A>C , CM000671.1:g.75309509A>C	GRCh37
NC_000009.10:g.74499329A>C	NCBI36
NG_008213.1:g.177793A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.115A>C MANE Select	ENSP00000297784.6:p.Arg39=
ENST00000644967.1:c.-198A>C	ENSP00000496159.1:n.-198A>C
ENST00000645053.1:c.-198A>C	ENSP00000493838.1:n.-198A>C
ENST00000645208.2:c.115A>C	ENSP00000494684.1:p.Arg39=
ENST00000645773.1:c.115A>C	ENSP00000493698.1:p.Arg39=
ENST00000645787.1:n.155A>C
ENST00000646244.1:n.565A>C
ENST00000646619.1:c.-198A>C	ENSP00000493726.1:n.-198A>C
ENST00000650689.1:n.539A>C
ENST00000651183.1:c.-198A>C	ENSP00000498723.1:n.-198A>C
ENST00000297784.9:c.115A>C	ENSP00000297784.5:p.Arg39=
ENST00000340019.4:c.115A>C	ENSP00000341433.3:p.Arg39=
NM_138691.2:c.115A>C	NP_619636.2:p.Arg39=
XM_011518213.1:c.703A>C	XP_011516515.1:p.Arg235=
XM_017014256.1:c.118A>C	XP_016869745.1:p.Arg40=
NM_138691.3:c.115A>C MANE Select	NP_619636.2:p.Arg39=