Canonical Allele Identifier: CA373669769

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75435869G>T (hg19) ; chr9:g.72820953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820953G>T , CM000671.2:g.72820953G>T	GRCh38
NC_000009.11:g.75435869G>T , CM000671.1:g.75435869G>T	GRCh37
NC_000009.10:g.74625689G>T	NCBI36
NG_008213.1:g.304153G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1875G>T MANE Select	ENSP00000297784.6:p.Arg625Ser
ENST00000644967.1:c.*315G>T	ENSP00000496159.1:n.*315G>T
ENST00000645053.1:c.1258-5916G>T	ENSP00000493838.1:n.1258-5916G>T
ENST00000645208.2:c.1875G>T	ENSP00000494684.1:p.Arg625Ser
ENST00000645773.1:c.1749G>T	ENSP00000493698.1:p.Arg583Ser
ENST00000645787.1:n.2018G>T
ENST00000646619.1:c.1437G>T	ENSP00000493726.1:p.Arg479Ser
ENST00000651183.1:c.1437G>T	ENSP00000498723.1:p.Arg479Ser
ENST00000297784.9:c.1875G>T	ENSP00000297784.5:p.Arg625Ser
ENST00000340019.4:c.1875G>T	ENSP00000341433.3:p.Arg625Ser
ENST00000469455.1:n.356G>T
ENST00000486417.5:n.773G>T
NM_138691.2:c.1875G>T	NP_619636.2:p.Arg625Ser
XM_011518213.1:c.2463G>T	XP_011516515.1:p.Arg821Ser
XM_017014256.1:c.1878G>T	XP_016869745.1:p.Arg626Ser
NM_138691.3:c.1875G>T MANE Select	NP_619636.2:p.Arg625Ser