Canonical Allele Identifier: CA373669758

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435864G>A (hg19) ; chr9:g.72820948G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820948G>A , CM000671.2:g.72820948G>A	GRCh38
NC_000009.11:g.75435864G>A , CM000671.1:g.75435864G>A	GRCh37
NC_000009.10:g.74625684G>A	NCBI36
NG_008213.1:g.304148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1870G>A MANE Select	ENSP00000297784.6:p.Ala624Thr
ENST00000644967.1:c.*310G>A	ENSP00000496159.1:n.*310G>A
ENST00000645053.1:c.1258-5921G>A	ENSP00000493838.1:n.1258-5921G>A
ENST00000645208.2:c.1870G>A	ENSP00000494684.1:p.Ala624Thr
ENST00000645773.1:c.1744G>A	ENSP00000493698.1:p.Ala582Thr
ENST00000645787.1:n.2013G>A
ENST00000646619.1:c.1432G>A	ENSP00000493726.1:p.Ala478Thr
ENST00000651183.1:c.1432G>A	ENSP00000498723.1:p.Ala478Thr
ENST00000297784.9:c.1870G>A	ENSP00000297784.5:p.Ala624Thr
ENST00000340019.4:c.1870G>A	ENSP00000341433.3:p.Ala624Thr
ENST00000469455.1:n.351G>A
ENST00000486417.5:n.768G>A
NM_138691.2:c.1870G>A	NP_619636.2:p.Ala624Thr
XM_011518213.1:c.2458G>A	XP_011516515.1:p.Ala820Thr
XM_017014256.1:c.1873G>A	XP_016869745.1:p.Ala625Thr
NM_138691.3:c.1870G>A MANE Select	NP_619636.2:p.Ala624Thr