Canonical Allele Identifier: CA373505953

Gene: TMC1

Linked Data

• ClinVar Variation Id: 505210
• ClinVar RCV Id: RCV000609883
• dbSNP Id: rs868082421
• MyVariant Identifiers: chr9:g.75406842C>A (hg19) ; chr9:g.72791926C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791926C>A , CM000671.2:g.72791926C>A	GRCh38
NC_000009.11:g.75406842C>A , CM000671.1:g.75406842C>A	GRCh37
NC_000009.10:g.74596662C>A	NCBI36
NG_008213.1:g.275126C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1265C>A MANE Select	ENSP00000297784.6:p.Thr422Lys
ENST00000644967.1:c.827C>A	ENSP00000496159.1:p.Thr276Lys
ENST00000645053.1:c.827C>A	ENSP00000493838.1:p.Thr276Lys
ENST00000645208.2:c.1265C>A	ENSP00000494684.1:p.Thr422Lys
ENST00000645773.1:c.1139C>A	ENSP00000493698.1:p.Thr380Lys
ENST00000645787.1:n.1305C>A
ENST00000646619.1:c.827C>A	ENSP00000493726.1:p.Thr276Lys
ENST00000650689.1:n.1563C>A
ENST00000651183.1:c.827C>A	ENSP00000498723.1:p.Thr276Lys
ENST00000297784.9:c.1265C>A	ENSP00000297784.5:p.Thr422Lys
ENST00000340019.4:c.1265C>A	ENSP00000341433.3:p.Thr422Lys
NM_138691.2:c.1265C>A	NP_619636.2:p.Thr422Lys
XM_011518213.1:c.1853C>A	XP_011516515.1:p.Thr618Lys
XM_017014256.1:c.1268C>A	XP_016869745.1:p.Thr423Lys
NM_138691.3:c.1265C>A MANE Select	NP_619636.2:p.Thr422Lys