Canonical Allele Identifier: CA193297088

Gene: TMC1

Linked Data

• dbSNP Id: rs888425701
• MyVariant Identifiers: chr9:g.75435879G>A (hg19) ; chr9:g.72820963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820963G>A , CM000671.2:g.72820963G>A	GRCh38
NC_000009.11:g.75435879G>A , CM000671.1:g.75435879G>A	GRCh37
NC_000009.10:g.74625699G>A	NCBI36
NG_008213.1:g.304163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1885G>A MANE Select	ENSP00000297784.6:p.Ala629Thr
ENST00000644967.1:c.*325G>A	ENSP00000496159.1:n.*325G>A
ENST00000645053.1:c.1258-5906G>A	ENSP00000493838.1:n.1258-5906G>A
ENST00000645208.2:c.1885G>A	ENSP00000494684.1:p.Ala629Thr
ENST00000645773.1:c.1759G>A	ENSP00000493698.1:p.Ala587Thr
ENST00000645787.1:n.2028G>A
ENST00000646619.1:c.1447G>A	ENSP00000493726.1:p.Ala483Thr
ENST00000651183.1:c.1447G>A	ENSP00000498723.1:p.Ala483Thr
ENST00000297784.9:c.1885G>A	ENSP00000297784.5:p.Ala629Thr
ENST00000340019.4:c.1885G>A	ENSP00000341433.3:p.Ala629Thr
ENST00000469455.1:n.366G>A
ENST00000486417.5:n.783G>A
NM_138691.2:c.1885G>A	NP_619636.2:p.Ala629Thr
XM_011518213.1:c.2473G>A	XP_011516515.1:p.Ala825Thr
XM_017014256.1:c.1888G>A	XP_016869745.1:p.Ala630Thr
NM_138691.3:c.1885G>A MANE Select	NP_619636.2:p.Ala629Thr