Canonical Allele Identifier: CA2690288057

Gene: TMC1

Linked Data

• gnomAD v4: 9-72788232-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72788232G>T , CM000671.2:g.72788232G>T	GRCh38
NC_000009.11:g.75403148G>T , CM000671.1:g.75403148G>T	GRCh37
NC_000009.10:g.74592968G>T	NCBI36
NG_008213.1:g.271432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.885-107G>T MANE Select	ENSP00000297784.6:n.885-107G>T
ENST00000644967.1:c.447-107G>T	ENSP00000496159.1:n.447-107G>T
ENST00000645053.1:c.447-107G>T	ENSP00000493838.1:n.447-107G>T
ENST00000645208.2:c.885-107G>T	ENSP00000494684.1:n.885-107G>T
ENST00000645773.1:c.759-107G>T	ENSP00000493698.1:n.759-107G>T
ENST00000645787.1:n.925-107G>T
ENST00000646619.1:c.447-107G>T	ENSP00000493726.1:n.447-107G>T
ENST00000650689.1:n.1183-107G>T
ENST00000651183.1:c.447-107G>T	ENSP00000498723.1:n.447-107G>T
ENST00000297784.9:c.885-107G>T	ENSP00000297784.5:n.885-107G>T
ENST00000340019.4:c.885-107G>T	ENSP00000341433.3:n.885-107G>T
NM_138691.2:c.885-107G>T	NP_619636.2:n.885-107G>T
XM_011518213.1:c.1473-107G>T	XP_011516515.1:n.1473-107G>T
XM_017014256.1:c.888-107G>T	XP_016869745.1:n.888-107G>T
NM_138691.3:c.885-107G>T MANE Select	NP_619636.2:n.885-107G>T