Canonical Allele Identifier: CA373670668

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1027641
• ClinVar RCV Id: RCV001328470
• dbSNP Id: rs1828864557
• gnomAD v4: 9-72821080-A-G
• MyVariant Identifiers: chr9:g.75435996A>G (hg19) ; chr9:g.72821080A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821080A>G , CM000671.2:g.72821080A>G	GRCh38
NC_000009.11:g.75435996A>G , CM000671.1:g.75435996A>G	GRCh37
NC_000009.10:g.74625816A>G	NCBI36
NG_008213.1:g.304280A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2002A>G MANE Select	ENSP00000297784.6:p.Ser668Gly
ENST00000644967.1:c.*442A>G	ENSP00000496159.1:n.*442A>G
ENST00000645053.1:c.1258-5789A>G	ENSP00000493838.1:n.1258-5789A>G
ENST00000645208.2:c.2002A>G	ENSP00000494684.1:p.Ser668Gly
ENST00000645773.1:c.1876A>G	ENSP00000493698.1:p.Ser626Gly
ENST00000645787.1:n.2145A>G
ENST00000646619.1:c.1564A>G	ENSP00000493726.1:p.Ser522Gly
ENST00000651183.1:c.1564A>G	ENSP00000498723.1:p.Ser522Gly
ENST00000297784.9:c.2002A>G	ENSP00000297784.5:p.Ser668Gly
ENST00000340019.4:c.2002A>G	ENSP00000341433.3:p.Ser668Gly
ENST00000469455.1:n.483A>G
ENST00000486417.5:n.900A>G
NM_138691.2:c.2002A>G	NP_619636.2:p.Ser668Gly
XM_011518213.1:c.2590A>G	XP_011516515.1:p.Ser864Gly
XM_017014256.1:c.2005A>G	XP_016869745.1:p.Ser669Gly
NM_138691.3:c.2002A>G MANE Select	NP_619636.2:p.Ser668Gly