Canonical Allele Identifier: CA193290563

Gene: TMC1

Linked Data

• dbSNP Id: rs539456375
• gnomAD v2: 9-75420580-T-C
• gnomAD v3: 9-72805664-T-C
• gnomAD v4: 9-72805664-T-C
• MyVariant Identifiers: chr9:g.75420580T>C (hg19) ; chr9:g.72805664T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805664T>C , CM000671.2:g.72805664T>C	GRCh38
NC_000009.11:g.75420580T>C , CM000671.1:g.75420580T>C	GRCh37
NC_000009.10:g.74610400T>C	NCBI36
NG_008213.1:g.288864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+154T>C MANE Select	ENSP00000297784.6:n.1695+154T>C
ENST00000644967.1:c.1257+154T>C	ENSP00000496159.1:n.1257+154T>C
ENST00000645053.1:c.1257+154T>C	ENSP00000493838.1:n.1257+154T>C
ENST00000645208.2:c.1695+154T>C	ENSP00000494684.1:n.1695+154T>C
ENST00000645773.1:c.1569+154T>C	ENSP00000493698.1:n.1569+154T>C
ENST00000645787.1:n.1838+154T>C
ENST00000646619.1:c.1257+154T>C	ENSP00000493726.1:n.1257+154T>C
ENST00000651183.1:c.1257+154T>C	ENSP00000498723.1:n.1257+154T>C
ENST00000297784.9:c.1695+154T>C	ENSP00000297784.5:n.1695+154T>C
ENST00000340019.4:c.1695+154T>C	ENSP00000341433.3:n.1695+154T>C
ENST00000486417.5:n.319+154T>C
NM_138691.2:c.1695+154T>C	NP_619636.2:n.1695+154T>C
XM_011518213.1:c.2283+154T>C	XP_011516515.1:n.2283+154T>C
XM_017014256.1:c.1698+154T>C	XP_016869745.1:n.1698+154T>C
NM_138691.3:c.1695+154T>C MANE Select	NP_619636.2:n.1695+154T>C