Canonical Allele Identifier: CA465189414

Gene: TMC1

Linked Data

• MyVariant Identifiers: chr9:g.75315524A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700608A>G , CM000671.2:g.72700608A>G	GRCh38
NC_000009.11:g.75315524A>G , CM000671.1:g.75315524A>G	GRCh37
NC_000009.10:g.74505344A>G	NCBI36
NG_008213.1:g.183808A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.327A>G MANE Select	ENSP00000297784.6:p.Lys109=
ENST00000644967.1:c.-77+5894A>G	ENSP00000496159.1:n.-77+5894A>G
ENST00000645053.1:c.-77+5894A>G	ENSP00000493838.1:n.-77+5894A>G
ENST00000645208.2:c.327A>G	ENSP00000494684.1:p.Lys109=
ENST00000645773.1:c.236+5894A>G	ENSP00000493698.1:n.236+5894A>G
ENST00000645787.1:n.367A>G
ENST00000646244.1:n.777A>G
ENST00000646619.1:c.-77+5894A>G	ENSP00000493726.1:n.-77+5894A>G
ENST00000650689.1:n.660+5894A>G
ENST00000651183.1:c.-77+5894A>G	ENSP00000498723.1:n.-77+5894A>G
ENST00000297784.9:c.327A>G	ENSP00000297784.5:p.Lys109=
ENST00000340019.4:c.327A>G	ENSP00000341433.3:p.Lys109=
NM_138691.2:c.327A>G	NP_619636.2:p.Lys109=
XM_011518213.1:c.915A>G	XP_011516515.1:p.Lys305=
XM_017014256.1:c.330A>G	XP_016869745.1:p.Lys110=
NM_138691.3:c.327A>G MANE Select	NP_619636.2:p.Lys109=