Canonical Allele Identifier: CA373724607

Gene: TMC1

Linked Data

• ClinVar Variation Id: 1202329
• ClinVar RCV Id: RCV001567973
• dbSNP Id: rs1345926328
• gnomAD v2: 9-75315529-G-A
• gnomAD v4: 9-72700613-G-A
• MyVariant Identifiers: chr9:g.75315529G>A (hg19) ; chr9:g.72700613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700613G>A , CM000671.2:g.72700613G>A	GRCh38
NC_000009.11:g.75315529G>A , CM000671.1:g.75315529G>A	GRCh37
NC_000009.10:g.74505349G>A	NCBI36
NG_008213.1:g.183813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.332G>A MANE Select	ENSP00000297784.6:p.Trp111Ter
ENST00000644967.1:c.-77+5899G>A	ENSP00000496159.1:n.-77+5899G>A
ENST00000645053.1:c.-77+5899G>A	ENSP00000493838.1:n.-77+5899G>A
ENST00000645208.2:c.332G>A	ENSP00000494684.1:p.Trp111Ter
ENST00000645773.1:c.236+5899G>A	ENSP00000493698.1:n.236+5899G>A
ENST00000645787.1:n.372G>A
ENST00000646244.1:n.782G>A
ENST00000646619.1:c.-77+5899G>A	ENSP00000493726.1:n.-77+5899G>A
ENST00000650689.1:n.660+5899G>A
ENST00000651183.1:c.-77+5899G>A	ENSP00000498723.1:n.-77+5899G>A
ENST00000297784.9:c.332G>A	ENSP00000297784.5:p.Trp111Ter
ENST00000340019.4:c.332G>A	ENSP00000341433.3:p.Trp111Ter
NM_138691.2:c.332G>A	NP_619636.2:p.Trp111Ter
XM_011518213.1:c.920G>A	XP_011516515.1:p.Trp307Ter
XM_017014256.1:c.335G>A	XP_016869745.1:p.Trp112Ter
NM_138691.3:c.332G>A MANE Select	NP_619636.2:p.Trp111Ter