Canonical Allele Identifier: CA178218

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72826935G>A , CM000671.2:g.72826935G>A	GRCh38
NC_000009.11:g.75441851G>A , CM000671.1:g.75441851G>A	GRCh37
NC_000009.10:g.74631671G>A	NCBI36
NG_008213.1:g.310135G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138691.3:c.2070G>A MANE Select	NP_619636.2:p.Ala690=
ENST00000297784.10:c.2070G>A MANE Select	ENSP00000297784.6:p.Ala690=
NM_138691.2:c.2070G>A	NP_619636.2:p.Ala690=
ENST00000297784.9:c.2070G>A	ENSP00000297784.5:p.Ala690=
ENST00000340019.4:c.2070G>A	ENSP00000341433.3:p.Ala690=
ENST00000469455.1:n.551G>A
ENST00000486417.5:n.968G>A
ENST00000644967.1:c.*510G>A	ENSP00000496159.1:n.*510G>A
ENST00000645053.1:c.*55G>A	ENSP00000493838.1:n.*55G>A
ENST00000645208.2:c.2070G>A	ENSP00000494684.1:p.Ala690=
ENST00000645773.1:c.1944G>A	ENSP00000493698.1:p.Ala648=
ENST00000645787.1:n.2213G>A
ENST00000646619.1:c.1632G>A	ENSP00000493726.1:p.Ala544=
ENST00000651183.1:c.1632G>A	ENSP00000498723.1:p.Ala544=
XM_011518213.1:c.2658G>A	XP_011516515.1:p.Ala886=
XM_017014256.1:c.2073G>A	XP_016869745.1:p.Ala691=