Canonical Allele Identifier: CA373508023

Gene: TMC1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72792353G>A , CM000671.2:g.72792353G>A	GRCh38
NC_000009.11:g.75407269G>A , CM000671.1:g.75407269G>A	GRCh37
NC_000009.10:g.74597089G>A	NCBI36
NG_008213.1:g.275553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1566+1G>A MANE Select	ENSP00000297784.6:n.1566+1G>A
ENST00000644967.1:c.1128+1G>A	ENSP00000496159.1:n.1128+1G>A
ENST00000645053.1:c.1128+1G>A	ENSP00000493838.1:n.1128+1G>A
ENST00000645208.2:c.1566+1G>A	ENSP00000494684.1:n.1566+1G>A
ENST00000645773.1:c.1440+1G>A	ENSP00000493698.1:n.1440+1G>A
ENST00000645787.1:n.1606+1G>A
ENST00000646619.1:c.1128+1G>A	ENSP00000493726.1:n.1128+1G>A
ENST00000650689.1:n.1865G>A
ENST00000651183.1:c.1128+1G>A	ENSP00000498723.1:n.1128+1G>A
ENST00000297784.9:c.1566+1G>A	ENSP00000297784.5:n.1566+1G>A
ENST00000340019.4:c.1566+1G>A	ENSP00000341433.3:n.1566+1G>A
ENST00000486417.5:n.190+1G>A
NM_138691.2:c.1566+1G>A	NP_619636.2:n.1566+1G>A
XM_011518213.1:c.2154+1G>A	XP_011516515.1:n.2154+1G>A
XM_017014256.1:c.1569+1G>A	XP_016869745.1:n.1569+1G>A
NM_138691.3:c.1566+1G>A MANE Select	NP_619636.2:n.1566+1G>A