Canonical Allele Identifier: CA373669831

Gene: TMC1

Linked Data

• dbSNP Id: rs541669728
• gnomAD v3: 9-72820979-A-G
• gnomAD v4: 9-72820979-A-G
• MyVariant Identifiers: chr9:g.75435895A>G (hg19) ; chr9:g.72820979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820979A>G , CM000671.2:g.72820979A>G	GRCh38
NC_000009.11:g.75435895A>G , CM000671.1:g.75435895A>G	GRCh37
NC_000009.10:g.74625715A>G	NCBI36
NG_008213.1:g.304179A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1901A>G MANE Select	ENSP00000297784.6:p.Asn634Ser
ENST00000644967.1:c.*341A>G	ENSP00000496159.1:n.*341A>G
ENST00000645053.1:c.1258-5890A>G	ENSP00000493838.1:n.1258-5890A>G
ENST00000645208.2:c.1901A>G	ENSP00000494684.1:p.Asn634Ser
ENST00000645773.1:c.1775A>G	ENSP00000493698.1:p.Asn592Ser
ENST00000645787.1:n.2044A>G
ENST00000646619.1:c.1463A>G	ENSP00000493726.1:p.Asn488Ser
ENST00000651183.1:c.1463A>G	ENSP00000498723.1:p.Asn488Ser
ENST00000297784.9:c.1901A>G	ENSP00000297784.5:p.Asn634Ser
ENST00000340019.4:c.1901A>G	ENSP00000341433.3:p.Asn634Ser
ENST00000469455.1:n.382A>G
ENST00000486417.5:n.799A>G
NM_138691.2:c.1901A>G	NP_619636.2:p.Asn634Ser
XM_011518213.1:c.2489A>G	XP_011516515.1:p.Asn830Ser
XM_017014256.1:c.1904A>G	XP_016869745.1:p.Asn635Ser
NM_138691.3:c.1901A>G MANE Select	NP_619636.2:p.Asn634Ser