Canonical Allele Identifier: CA588650225

Gene: TMC1

Linked Data

• dbSNP Id: rs1309288679
• gnomAD v2: 9-75406749-A-G
• gnomAD v3: 9-72791833-A-G
• gnomAD v4: 9-72791833-A-G
• MyVariant Identifiers: chr9:g.75406749A>G (hg19) ; chr9:g.72791833A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791833A>G , CM000671.2:g.72791833A>G	GRCh38
NC_000009.11:g.75406749A>G , CM000671.1:g.75406749A>G	GRCh37
NC_000009.10:g.74596569A>G	NCBI36
NG_008213.1:g.275033A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1225-53A>G MANE Select	ENSP00000297784.6:n.1225-53A>G
ENST00000644967.1:c.787-53A>G	ENSP00000496159.1:n.787-53A>G
ENST00000645053.1:c.787-53A>G	ENSP00000493838.1:n.787-53A>G
ENST00000645208.2:c.1225-53A>G	ENSP00000494684.1:n.1225-53A>G
ENST00000645773.1:c.1099-53A>G	ENSP00000493698.1:n.1099-53A>G
ENST00000645787.1:n.1265-53A>G
ENST00000646619.1:c.787-53A>G	ENSP00000493726.1:n.787-53A>G
ENST00000650689.1:n.1523-53A>G
ENST00000651183.1:c.787-53A>G	ENSP00000498723.1:n.787-53A>G
ENST00000297784.9:c.1225-53A>G	ENSP00000297784.5:n.1225-53A>G
ENST00000340019.4:c.1225-53A>G	ENSP00000341433.3:n.1225-53A>G
NM_138691.2:c.1225-53A>G	NP_619636.2:n.1225-53A>G
XM_011518213.1:c.1813-53A>G	XP_011516515.1:n.1813-53A>G
XM_017014256.1:c.1228-53A>G	XP_016869745.1:n.1228-53A>G
NM_138691.3:c.1225-53A>G MANE Select	NP_619636.2:n.1225-53A>G