Canonical Allele Identifier: CA465492677

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435890A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820974A>C , CM000671.2:g.72820974A>C	GRCh38
NC_000009.11:g.75435890A>C , CM000671.1:g.75435890A>C	GRCh37
NC_000009.10:g.74625710A>C	NCBI36
NG_008213.1:g.304174A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1896A>C MANE Select	ENSP00000297784.6:p.Ser632=
ENST00000644967.1:c.*336A>C	ENSP00000496159.1:n.*336A>C
ENST00000645053.1:c.1258-5895A>C	ENSP00000493838.1:n.1258-5895A>C
ENST00000645208.2:c.1896A>C	ENSP00000494684.1:p.Ser632=
ENST00000645773.1:c.1770A>C	ENSP00000493698.1:p.Ser590=
ENST00000645787.1:n.2039A>C
ENST00000646619.1:c.1458A>C	ENSP00000493726.1:p.Ser486=
ENST00000651183.1:c.1458A>C	ENSP00000498723.1:p.Ser486=
ENST00000297784.9:c.1896A>C	ENSP00000297784.5:p.Ser632=
ENST00000340019.4:c.1896A>C	ENSP00000341433.3:p.Ser632=
ENST00000469455.1:n.377A>C
ENST00000486417.5:n.794A>C
NM_138691.2:c.1896A>C	NP_619636.2:p.Ser632=
XM_011518213.1:c.2484A>C	XP_011516515.1:p.Ser828=
XM_017014256.1:c.1899A>C	XP_016869745.1:p.Ser633=
NM_138691.3:c.1896A>C MANE Select	NP_619636.2:p.Ser632=