Canonical Allele Identifier: CA465186926

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75403255A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72788339A>C , CM000671.2:g.72788339A>C	GRCh38
NC_000009.11:g.75403255A>C , CM000671.1:g.75403255A>C	GRCh37
NC_000009.10:g.74593075A>C	NCBI36
NG_008213.1:g.271539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.885A>C MANE Select	ENSP00000297784.6:p.Ala295=
ENST00000644967.1:c.447A>C	ENSP00000496159.1:p.Ala149=
ENST00000645053.1:c.447A>C	ENSP00000493838.1:p.Ala149=
ENST00000645208.2:c.885A>C	ENSP00000494684.1:p.Ala295=
ENST00000645773.1:c.759A>C	ENSP00000493698.1:p.Ala253=
ENST00000645787.1:n.925A>C
ENST00000646619.1:c.447A>C	ENSP00000493726.1:p.Ala149=
ENST00000650689.1:n.1183A>C
ENST00000651183.1:c.447A>C	ENSP00000498723.1:p.Ala149=
ENST00000297784.9:c.885A>C	ENSP00000297784.5:p.Ala295=
ENST00000340019.4:c.885A>C	ENSP00000341433.3:p.Ala295=
NM_138691.2:c.885A>C	NP_619636.2:p.Ala295=
XM_011518213.1:c.1473A>C	XP_011516515.1:p.Ala491=
XM_017014256.1:c.888A>C	XP_016869745.1:p.Ala296=
NM_138691.3:c.885A>C MANE Select	NP_619636.2:p.Ala295=