Canonical Allele Identifier: CA373504227

Gene: TMC1

Linked Data

• ClinVar Variation Id: 620585
• ClinVar RCV Id: RCV000760982
• dbSNP Id: rs1564554148
• gnomAD v4: 9-72788337-A-C
• MyVariant Identifiers: chr9:g.75403253A>C (hg19) ; chr9:g.72788337A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72788337A>C , CM000671.2:g.72788337A>C	GRCh38
NC_000009.11:g.75403253A>C , CM000671.1:g.75403253A>C	GRCh37
NC_000009.10:g.74593073A>C	NCBI36
NG_008213.1:g.271537A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.885-2A>C MANE Select	ENSP00000297784.6:n.885-2A>C
ENST00000644967.1:c.447-2A>C	ENSP00000496159.1:n.447-2A>C
ENST00000645053.1:c.447-2A>C	ENSP00000493838.1:n.447-2A>C
ENST00000645208.2:c.885-2A>C	ENSP00000494684.1:n.885-2A>C
ENST00000645773.1:c.759-2A>C	ENSP00000493698.1:n.759-2A>C
ENST00000645787.1:n.925-2A>C
ENST00000646619.1:c.447-2A>C	ENSP00000493726.1:n.447-2A>C
ENST00000650689.1:n.1183-2A>C
ENST00000651183.1:c.447-2A>C	ENSP00000498723.1:n.447-2A>C
ENST00000297784.9:c.885-2A>C	ENSP00000297784.5:n.885-2A>C
ENST00000340019.4:c.885-2A>C	ENSP00000341433.3:n.885-2A>C
NM_138691.2:c.885-2A>C	NP_619636.2:n.885-2A>C
XM_011518213.1:c.1473-2A>C	XP_011516515.1:n.1473-2A>C
XM_017014256.1:c.888-2A>C	XP_016869745.1:n.888-2A>C
NM_138691.3:c.885-2A>C MANE Select	NP_619636.2:n.885-2A>C