Canonical Allele Identifier: CA5081885

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2735280
• ClinVar RCV Id: RCV003557450
• dbSNP Id: rs772640673
• ExAC: 9:75404175 G / A
• gnomAD v2: 9-75404175-G-A
• gnomAD v3: 9-72789259-G-A
• gnomAD v4: 9-72789259-G-A
• MyVariant Identifiers: chr9:g.75404175G>A (hg19) ; chr9:g.72789259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789259G>A , CM000671.2:g.72789259G>A	GRCh38
NC_000009.11:g.75404175G>A , CM000671.1:g.75404175G>A	GRCh37
NC_000009.10:g.74593995G>A	NCBI36
NG_008213.1:g.272459G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1166G>A MANE Select	ENSP00000297784.6:p.Arg389Gln
ENST00000644967.1:c.728G>A	ENSP00000496159.1:p.Arg243Gln
ENST00000645053.1:c.728G>A	ENSP00000493838.1:p.Arg243Gln
ENST00000645208.2:c.1166G>A	ENSP00000494684.1:p.Arg389Gln
ENST00000645773.1:c.1040G>A	ENSP00000493698.1:p.Arg347Gln
ENST00000645787.1:n.1206G>A
ENST00000646619.1:c.728G>A	ENSP00000493726.1:p.Arg243Gln
ENST00000650689.1:n.1464G>A
ENST00000651183.1:c.728G>A	ENSP00000498723.1:p.Arg243Gln
ENST00000297784.9:c.1166G>A	ENSP00000297784.5:p.Arg389Gln
ENST00000340019.4:c.1166G>A	ENSP00000341433.3:p.Arg389Gln
NM_138691.2:c.1166G>A	NP_619636.2:p.Arg389Gln
XM_011518213.1:c.1754G>A	XP_011516515.1:p.Arg585Gln
XM_017014256.1:c.1169G>A	XP_016869745.1:p.Arg390Gln
NM_138691.3:c.1166G>A MANE Select	NP_619636.2:p.Arg389Gln