Canonical Allele Identifier: CA465189379

Gene: TMC1

Linked Data

• gnomAD v4: 9-72700542-G-A
• MyVariant Identifiers: chr9:g.75315458G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700542G>A , CM000671.2:g.72700542G>A	GRCh38
NC_000009.11:g.75315458G>A , CM000671.1:g.75315458G>A	GRCh37
NC_000009.10:g.74505278G>A	NCBI36
NG_008213.1:g.183742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.261G>A MANE Select	ENSP00000297784.6:p.Glu87=
ENST00000644967.1:c.-77+5828G>A	ENSP00000496159.1:n.-77+5828G>A
ENST00000645053.1:c.-77+5828G>A	ENSP00000493838.1:n.-77+5828G>A
ENST00000645208.2:c.261G>A	ENSP00000494684.1:p.Glu87=
ENST00000645773.1:c.236+5828G>A	ENSP00000493698.1:n.236+5828G>A
ENST00000645787.1:n.301G>A
ENST00000646244.1:n.711G>A
ENST00000646619.1:c.-77+5828G>A	ENSP00000493726.1:n.-77+5828G>A
ENST00000650689.1:n.660+5828G>A
ENST00000651183.1:c.-77+5828G>A	ENSP00000498723.1:n.-77+5828G>A
ENST00000297784.9:c.261G>A	ENSP00000297784.5:p.Glu87=
ENST00000340019.4:c.261G>A	ENSP00000341433.3:p.Glu87=
NM_138691.2:c.261G>A	NP_619636.2:p.Glu87=
XM_011518213.1:c.849G>A	XP_011516515.1:p.Glu283=
XM_017014256.1:c.264G>A	XP_016869745.1:p.Glu88=
NM_138691.3:c.261G>A MANE Select	NP_619636.2:p.Glu87=