Canonical Allele Identifier: CA465188467
Gene: TMC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.75309499A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72694583A>G , CM000671.2:g.72694583A>G GRCh38
NC_000009.11:g.75309499A>G , CM000671.1:g.75309499A>G GRCh37
NC_000009.10:g.74499319A>G NCBI36
NG_008213.1:g.177783A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297784.10:c.105A>G MANE Select ENSP00000297784.6:p.Arg35=
ENST00000644967.1:c.-208A>G ENSP00000496159.1:n.-208A>G
ENST00000645053.1:c.-208A>G ENSP00000493838.1:n.-208A>G
ENST00000645208.2:c.105A>G ENSP00000494684.1:p.Arg35=
ENST00000645773.1:c.105A>G ENSP00000493698.1:p.Arg35=
ENST00000645787.1:n.145A>G
ENST00000646244.1:n.555A>G
ENST00000646619.1:c.-208A>G ENSP00000493726.1:n.-208A>G
ENST00000650689.1:n.529A>G
ENST00000651183.1:c.-208A>G ENSP00000498723.1:n.-208A>G
ENST00000297784.9:c.105A>G ENSP00000297784.5:p.Arg35=
ENST00000340019.4:c.105A>G ENSP00000341433.3:p.Arg35=
NM_138691.2:c.105A>G NP_619636.2:p.Arg35=
XM_011518213.1:c.693A>G XP_011516515.1:p.Arg231=
XM_017014256.1:c.108A>G XP_016869745.1:p.Arg36=
NM_138691.3:c.105A>G MANE Select NP_619636.2:p.Arg35=