Canonical Allele Identifier: CA5081835

Gene: TMC1

Linked Data

• ClinVar Variation Id: 287882
• ClinVar RCV Id: RCV000271834 ; RCV002494874
• dbSNP Id: rs142629075
• ExAC: 9:75403326 C / G
• gnomAD v2: 9-75403326-C-G
• gnomAD v3: 9-72788410-C-G
• gnomAD v4: 9-72788410-C-G
• MyVariant Identifiers: chr9:g.75403326C>G (hg19) ; chr9:g.72788410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72788410C>G , CM000671.2:g.72788410C>G	GRCh38
NC_000009.11:g.75403326C>G , CM000671.1:g.75403326C>G	GRCh37
NC_000009.10:g.74593146C>G	NCBI36
NG_008213.1:g.271610C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.956C>G MANE Select	ENSP00000297784.6:p.Thr319Ser
ENST00000644967.1:c.518C>G	ENSP00000496159.1:p.Thr173Ser
ENST00000645053.1:c.518C>G	ENSP00000493838.1:p.Thr173Ser
ENST00000645208.2:c.956C>G	ENSP00000494684.1:p.Thr319Ser
ENST00000645773.1:c.830C>G	ENSP00000493698.1:p.Thr277Ser
ENST00000645787.1:n.996C>G
ENST00000646619.1:c.518C>G	ENSP00000493726.1:p.Thr173Ser
ENST00000650689.1:n.1254C>G
ENST00000651183.1:c.518C>G	ENSP00000498723.1:p.Thr173Ser
ENST00000297784.9:c.956C>G	ENSP00000297784.5:p.Thr319Ser
ENST00000340019.4:c.956C>G	ENSP00000341433.3:p.Thr319Ser
NM_138691.2:c.956C>G	NP_619636.2:p.Thr319Ser
XM_011518213.1:c.1544C>G	XP_011516515.1:p.Thr515Ser
XM_017014256.1:c.959C>G	XP_016869745.1:p.Thr320Ser
NM_138691.3:c.956C>G MANE Select	NP_619636.2:p.Thr319Ser