Canonical Allele Identifier: CA465188476

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2732961
• ClinVar RCV Id: RCV003561954
• dbSNP Id: rs2132189522
• MyVariant Identifiers: chr9:g.75309502G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694586G>A , CM000671.2:g.72694586G>A	GRCh38
NC_000009.11:g.75309502G>A , CM000671.1:g.75309502G>A	GRCh37
NC_000009.10:g.74499322G>A	NCBI36
NG_008213.1:g.177786G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.108G>A MANE Select	ENSP00000297784.6:p.Glu36=
ENST00000644967.1:c.-205G>A	ENSP00000496159.1:n.-205G>A
ENST00000645053.1:c.-205G>A	ENSP00000493838.1:n.-205G>A
ENST00000645208.2:c.108G>A	ENSP00000494684.1:p.Glu36=
ENST00000645773.1:c.108G>A	ENSP00000493698.1:p.Glu36=
ENST00000645787.1:n.148G>A
ENST00000646244.1:n.558G>A
ENST00000646619.1:c.-205G>A	ENSP00000493726.1:n.-205G>A
ENST00000650689.1:n.532G>A
ENST00000651183.1:c.-205G>A	ENSP00000498723.1:n.-205G>A
ENST00000297784.9:c.108G>A	ENSP00000297784.5:p.Glu36=
ENST00000340019.4:c.108G>A	ENSP00000341433.3:p.Glu36=
NM_138691.2:c.108G>A	NP_619636.2:p.Glu36=
XM_011518213.1:c.696G>A	XP_011516515.1:p.Glu232=
XM_017014256.1:c.111G>A	XP_016869745.1:p.Glu37=
NM_138691.3:c.108G>A MANE Select	NP_619636.2:p.Glu36=