Canonical Allele Identifier: CA588650264

Gene: TMC1

Linked Data

• dbSNP Id: rs1471259481
• gnomAD v2: 9-75436084-T-C
• gnomAD v3: 9-72821168-T-C
• gnomAD v4: 9-72821168-T-C
• MyVariant Identifiers: chr9:g.75436084T>C (hg19) ; chr9:g.72821168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821168T>C , CM000671.2:g.72821168T>C	GRCh38
NC_000009.11:g.75436084T>C , CM000671.1:g.75436084T>C	GRCh37
NC_000009.10:g.74625904T>C	NCBI36
NG_008213.1:g.304368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+87T>C MANE Select	ENSP00000297784.6:n.2003+87T>C
ENST00000644967.1:c.*443+87T>C	ENSP00000496159.1:n.*443+87T>C
ENST00000645053.1:c.1258-5701T>C	ENSP00000493838.1:n.1258-5701T>C
ENST00000645208.2:c.2003+87T>C	ENSP00000494684.1:n.2003+87T>C
ENST00000645773.1:c.1877+87T>C	ENSP00000493698.1:n.1877+87T>C
ENST00000645787.1:n.2146+87T>C
ENST00000646619.1:c.1565+87T>C	ENSP00000493726.1:n.1565+87T>C
ENST00000651183.1:c.1565+87T>C	ENSP00000498723.1:n.1565+87T>C
ENST00000297784.9:c.2003+87T>C	ENSP00000297784.5:n.2003+87T>C
ENST00000340019.4:c.2003+87T>C	ENSP00000341433.3:n.2003+87T>C
ENST00000469455.1:n.484+87T>C
ENST00000486417.5:n.901+87T>C
NM_138691.2:c.2003+87T>C	NP_619636.2:n.2003+87T>C
XM_011518213.1:c.2591+87T>C	XP_011516515.1:n.2591+87T>C
XM_017014256.1:c.2006+87T>C	XP_016869745.1:n.2006+87T>C
NM_138691.3:c.2003+87T>C MANE Select	NP_619636.2:n.2003+87T>C