Canonical Allele Identifier: CA373669972

Gene: TMC1

Linked Data

• dbSNP Id: rs1828861661
• MyVariant Identifiers: chr9:g.75435906G>A (hg19) ; chr9:g.72820990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820990G>A , CM000671.2:g.72820990G>A	GRCh38
NC_000009.11:g.75435906G>A , CM000671.1:g.75435906G>A	GRCh37
NC_000009.10:g.74625726G>A	NCBI36
NG_008213.1:g.304190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1912G>A MANE Select	ENSP00000297784.6:p.Gly638Ser
ENST00000644967.1:c.*352G>A	ENSP00000496159.1:n.*352G>A
ENST00000645053.1:c.1258-5879G>A	ENSP00000493838.1:n.1258-5879G>A
ENST00000645208.2:c.1912G>A	ENSP00000494684.1:p.Gly638Ser
ENST00000645773.1:c.1786G>A	ENSP00000493698.1:p.Gly596Ser
ENST00000645787.1:n.2055G>A
ENST00000646619.1:c.1474G>A	ENSP00000493726.1:p.Gly492Ser
ENST00000651183.1:c.1474G>A	ENSP00000498723.1:p.Gly492Ser
ENST00000297784.9:c.1912G>A	ENSP00000297784.5:p.Gly638Ser
ENST00000340019.4:c.1912G>A	ENSP00000341433.3:p.Gly638Ser
ENST00000469455.1:n.393G>A
ENST00000486417.5:n.810G>A
NM_138691.2:c.1912G>A	NP_619636.2:p.Gly638Ser
XM_011518213.1:c.2500G>A	XP_011516515.1:p.Gly834Ser
XM_017014256.1:c.1915G>A	XP_016869745.1:p.Gly639Ser
NM_138691.3:c.1912G>A MANE Select	NP_619636.2:p.Gly638Ser