Canonical Allele Identifier: CA178210

Gene: TMC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72792318C>A , CM000671.2:g.72792318C>A	GRCh38
NC_000009.11:g.75407234C>A , CM000671.1:g.75407234C>A	GRCh37
NC_000009.10:g.74597054C>A	NCBI36
NG_008213.1:g.275518C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1532C>A MANE Select	ENSP00000297784.6:p.Pro511His
ENST00000644967.1:c.1094C>A	ENSP00000496159.1:p.Pro365His
ENST00000645053.1:c.1094C>A	ENSP00000493838.1:p.Pro365His
ENST00000645208.2:c.1532C>A	ENSP00000494684.1:p.Pro511His
ENST00000645773.1:c.1406C>A	ENSP00000493698.1:p.Pro469His
ENST00000645787.1:n.1572C>A
ENST00000646619.1:c.1094C>A	ENSP00000493726.1:p.Pro365His
ENST00000650689.1:n.1830C>A
ENST00000651183.1:c.1094C>A	ENSP00000498723.1:p.Pro365His
ENST00000297784.9:c.1532C>A	ENSP00000297784.5:p.Pro511His
ENST00000340019.4:c.1532C>A	ENSP00000341433.3:p.Pro511His
ENST00000486417.5:n.156C>A
NM_138691.2:c.1532C>A	NP_619636.2:p.Pro511His
XM_011518213.1:c.2120C>A	XP_011516515.1:p.Pro707His
XM_017014256.1:c.1535C>A	XP_016869745.1:p.Pro512His
NM_138691.3:c.1532C>A MANE Select	NP_619636.2:p.Pro511His