Canonical Allele Identifier: CA373667547
Community Standard Title: NM_138691.3(TMC1):c.1589C>A (p.Ser530Tyr)
Gene: TMC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72805404C>A , CM000671.2:g.72805404C>A GRCh38
NC_000009.11:g.75420320C>A , CM000671.1:g.75420320C>A GRCh37
NC_000009.10:g.74610140C>A NCBI36
NG_008213.1:g.288604C>A

Transcript Alleles

HGVS Amino-acid Change
NM_138691.3:c.1589C>A MANE Select NP_619636.2:p.Ser530Tyr
ENST00000297784.10:c.1589C>A MANE Select ENSP00000297784.6:p.Ser530Tyr
NM_138691.2:c.1589C>A NP_619636.2:p.Ser530Tyr
ENST00000297784.9:c.1589C>A ENSP00000297784.5:p.Ser530Tyr
ENST00000340019.4:c.1589C>A ENSP00000341433.3:p.Ser530Tyr
ENST00000486417.5:n.213C>A
ENST00000644967.1:c.1151C>A ENSP00000496159.1:p.Ser384Tyr
ENST00000645053.1:c.1151C>A ENSP00000493838.1:p.Ser384Tyr
ENST00000645208.2:c.1589C>A ENSP00000494684.1:p.Ser530Tyr
ENST00000645773.1:c.1463C>A ENSP00000493698.1:p.Ser488Tyr
ENST00000645787.1:n.1732C>A
ENST00000646619.1:c.1151C>A ENSP00000493726.1:p.Ser384Tyr
ENST00000651183.1:c.1151C>A ENSP00000498723.1:p.Ser384Tyr
XM_011518213.1:c.2177C>A XP_011516515.1:p.Ser726Tyr
XM_017014256.1:c.1592C>A XP_016869745.1:p.Ser531Tyr