Canonical Allele Identifier: CA588650226

Gene: TMC1

Linked Data

• dbSNP Id: rs1408128130
• gnomAD v2: 9-75406751-T-A
• gnomAD v4: 9-72791835-T-A
• MyVariant Identifiers: chr9:g.75406751T>A (hg19) ; chr9:g.72791835T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791835T>A , CM000671.2:g.72791835T>A	GRCh38
NC_000009.11:g.75406751T>A , CM000671.1:g.75406751T>A	GRCh37
NC_000009.10:g.74596571T>A	NCBI36
NG_008213.1:g.275035T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1225-51T>A MANE Select	ENSP00000297784.6:n.1225-51T>A
ENST00000644967.1:c.787-51T>A	ENSP00000496159.1:n.787-51T>A
ENST00000645053.1:c.787-51T>A	ENSP00000493838.1:n.787-51T>A
ENST00000645208.2:c.1225-51T>A	ENSP00000494684.1:n.1225-51T>A
ENST00000645773.1:c.1099-51T>A	ENSP00000493698.1:n.1099-51T>A
ENST00000645787.1:n.1265-51T>A
ENST00000646619.1:c.787-51T>A	ENSP00000493726.1:n.787-51T>A
ENST00000650689.1:n.1523-51T>A
ENST00000651183.1:c.787-51T>A	ENSP00000498723.1:n.787-51T>A
ENST00000297784.9:c.1225-51T>A	ENSP00000297784.5:n.1225-51T>A
ENST00000340019.4:c.1225-51T>A	ENSP00000341433.3:n.1225-51T>A
NM_138691.2:c.1225-51T>A	NP_619636.2:n.1225-51T>A
XM_011518213.1:c.1813-51T>A	XP_011516515.1:n.1813-51T>A
XM_017014256.1:c.1228-51T>A	XP_016869745.1:n.1228-51T>A
NM_138691.3:c.1225-51T>A MANE Select	NP_619636.2:n.1225-51T>A