Canonical Allele Identifier: CA373504239

Gene: TMC1

Linked Data

• dbSNP Id: rs1828204380
• gnomAD v3: 9-72788341-T-A
• gnomAD v4: 9-72788341-T-A
• MyVariant Identifiers: chr9:g.75403257T>A (hg19) ; chr9:g.72788341T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72788341T>A , CM000671.2:g.72788341T>A	GRCh38
NC_000009.11:g.75403257T>A , CM000671.1:g.75403257T>A	GRCh37
NC_000009.10:g.74593077T>A	NCBI36
NG_008213.1:g.271541T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.887T>A MANE Select	ENSP00000297784.6:p.Met296Lys
ENST00000644967.1:c.449T>A	ENSP00000496159.1:p.Met150Lys
ENST00000645053.1:c.449T>A	ENSP00000493838.1:p.Met150Lys
ENST00000645208.2:c.887T>A	ENSP00000494684.1:p.Met296Lys
ENST00000645773.1:c.761T>A	ENSP00000493698.1:p.Met254Lys
ENST00000645787.1:n.927T>A
ENST00000646619.1:c.449T>A	ENSP00000493726.1:p.Met150Lys
ENST00000650689.1:n.1185T>A
ENST00000651183.1:c.449T>A	ENSP00000498723.1:p.Met150Lys
ENST00000297784.9:c.887T>A	ENSP00000297784.5:p.Met296Lys
ENST00000340019.4:c.887T>A	ENSP00000341433.3:p.Met296Lys
NM_138691.2:c.887T>A	NP_619636.2:p.Met296Lys
XM_011518213.1:c.1475T>A	XP_011516515.1:p.Met492Lys
XM_017014256.1:c.890T>A	XP_016869745.1:p.Met297Lys
NM_138691.3:c.887T>A MANE Select	NP_619636.2:p.Met296Lys