Canonical Allele Identifier: CA1855065446

Gene: TMC1

Linked Data

• dbSNP Id: rs1826516505
• gnomAD v4: 9-72694490-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694490A>G , CM000671.2:g.72694490A>G	GRCh38
NC_000009.11:g.75309406A>G , CM000671.1:g.75309406A>G	GRCh37
NC_000009.10:g.74499226A>G	NCBI36
NG_008213.1:g.177690A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.65-53A>G MANE Select	ENSP00000297784.6:n.65-53A>G
ENST00000644967.1:c.-248-53A>G	ENSP00000496159.1:n.-248-53A>G
ENST00000645053.1:c.-248-53A>G	ENSP00000493838.1:n.-248-53A>G
ENST00000645208.2:c.65-53A>G	ENSP00000494684.1:n.65-53A>G
ENST00000645773.1:c.65-53A>G	ENSP00000493698.1:n.65-53A>G
ENST00000645787.1:n.93-41A>G
ENST00000646244.1:n.515-53A>G
ENST00000646619.1:c.-248-53A>G	ENSP00000493726.1:n.-248-53A>G
ENST00000650689.1:n.489-53A>G
ENST00000651183.1:c.-248-53A>G	ENSP00000498723.1:n.-248-53A>G
ENST00000297784.9:c.65-53A>G	ENSP00000297784.5:n.65-53A>G
ENST00000340019.4:c.65-53A>G	ENSP00000341433.3:n.65-53A>G
NM_138691.2:c.65-53A>G	NP_619636.2:n.65-53A>G
XM_011518213.1:c.653-53A>G	XP_011516515.1:n.653-53A>G
XM_017014256.1:c.68-53A>G	XP_016869745.1:n.68-53A>G
NM_138691.3:c.65-53A>G MANE Select	NP_619636.2:n.65-53A>G