Canonical Allele Identifier: CA2690284786

Gene: TMC1

Linked Data

• gnomAD v4: 9-72577994-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72577994C>T , CM000671.2:g.72577994C>T	GRCh38
NC_000009.11:g.75192910C>T , CM000671.1:g.75192910C>T	GRCh37
NC_000009.10:g.74382730C>T	NCBI36
NG_008213.1:g.61194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.-335C>T MANE Select	ENSP00000297784.6:n.-335C>T
ENST00000643676.1:n.307-38374C>T
ENST00000645053.1:c.-579C>T	ENSP00000493838.1:n.-579C>T
ENST00000645208.2:c.-335C>T	ENSP00000494684.1:n.-335C>T
ENST00000645773.1:c.-335C>T	ENSP00000493698.1:n.-335C>T
ENST00000646244.1:n.75C>T
ENST00000650689.1:n.158C>T
ENST00000651183.1:c.-436C>T	ENSP00000498723.1:n.-436C>T
ENST00000651743.1:n.208C>T
ENST00000297784.9:c.-335C>T	ENSP00000297784.5:n.-335C>T
ENST00000497073.1:n.207C>T
NM_138691.2:c.-335C>T	NP_619636.2:n.-335C>T
NM_138691.3:c.-335C>T MANE Select	NP_619636.2:n.-335C>T