Canonical Allele Identifier: CA373723727
Gene: TMC1 HGNC NCBI

Linked Data

dbSNP Id: rs2132189525

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72694590T>A , CM000671.2:g.72694590T>A GRCh38
NC_000009.11:g.75309506T>A , CM000671.1:g.75309506T>A GRCh37
NC_000009.10:g.74499326T>A NCBI36
NG_008213.1:g.177790T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297784.10:c.112T>A MANE Select ENSP00000297784.6:p.Leu38Met
ENST00000644967.1:c.-201T>A ENSP00000496159.1:n.-201T>A
ENST00000645053.1:c.-201T>A ENSP00000493838.1:n.-201T>A
ENST00000645208.2:c.112T>A ENSP00000494684.1:p.Leu38Met
ENST00000645773.1:c.112T>A ENSP00000493698.1:p.Leu38Met
ENST00000645787.1:n.152T>A
ENST00000646244.1:n.562T>A
ENST00000646619.1:c.-201T>A ENSP00000493726.1:n.-201T>A
ENST00000650689.1:n.536T>A
ENST00000651183.1:c.-201T>A ENSP00000498723.1:n.-201T>A
ENST00000297784.9:c.112T>A ENSP00000297784.5:p.Leu38Met
ENST00000340019.4:c.112T>A ENSP00000341433.3:p.Leu38Met
NM_138691.2:c.112T>A NP_619636.2:p.Leu38Met
XM_011518213.1:c.700T>A XP_011516515.1:p.Leu234Met
XM_017014256.1:c.115T>A XP_016869745.1:p.Leu39Met
NM_138691.3:c.112T>A MANE Select NP_619636.2:p.Leu38Met