Canonical Allele Identifier: CA373505011

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75404182G>T (hg19) ; chr9:g.72789266G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789266G>T , CM000671.2:g.72789266G>T	GRCh38
NC_000009.11:g.75404182G>T , CM000671.1:g.75404182G>T	GRCh37
NC_000009.10:g.74594002G>T	NCBI36
NG_008213.1:g.272466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1173G>T MANE Select	ENSP00000297784.6:p.Gln391His
ENST00000644967.1:c.735G>T	ENSP00000496159.1:p.Gln245His
ENST00000645053.1:c.735G>T	ENSP00000493838.1:p.Gln245His
ENST00000645208.2:c.1173G>T	ENSP00000494684.1:p.Gln391His
ENST00000645773.1:c.1047G>T	ENSP00000493698.1:p.Gln349His
ENST00000645787.1:n.1213G>T
ENST00000646619.1:c.735G>T	ENSP00000493726.1:p.Gln245His
ENST00000650689.1:n.1471G>T
ENST00000651183.1:c.735G>T	ENSP00000498723.1:p.Gln245His
ENST00000297784.9:c.1173G>T	ENSP00000297784.5:p.Gln391His
ENST00000340019.4:c.1173G>T	ENSP00000341433.3:p.Gln391His
NM_138691.2:c.1173G>T	NP_619636.2:p.Gln391His
XM_011518213.1:c.1761G>T	XP_011516515.1:p.Gln587His
XM_017014256.1:c.1176G>T	XP_016869745.1:p.Gln392His
NM_138691.3:c.1173G>T MANE Select	NP_619636.2:p.Gln391His