Canonical Allele Identifier: CA373669775
Gene: TMC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72820955T>G , CM000671.2:g.72820955T>G GRCh38
NC_000009.11:g.75435871T>G , CM000671.1:g.75435871T>G GRCh37
NC_000009.10:g.74625691T>G NCBI36
NG_008213.1:g.304155T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1877T>G MANE Select ENSP00000297784.6:p.Val626Gly
ENST00000644967.1:c.*317T>G ENSP00000496159.1:n.*317T>G
ENST00000645053.1:c.1258-5914T>G ENSP00000493838.1:n.1258-5914T>G
ENST00000645208.2:c.1877T>G ENSP00000494684.1:p.Val626Gly
ENST00000645773.1:c.1751T>G ENSP00000493698.1:p.Val584Gly
ENST00000645787.1:n.2020T>G
ENST00000646619.1:c.1439T>G ENSP00000493726.1:p.Val480Gly
ENST00000651183.1:c.1439T>G ENSP00000498723.1:p.Val480Gly
ENST00000297784.9:c.1877T>G ENSP00000297784.5:p.Val626Gly
ENST00000340019.4:c.1877T>G ENSP00000341433.3:p.Val626Gly
ENST00000469455.1:n.358T>G
ENST00000486417.5:n.775T>G
NM_138691.2:c.1877T>G NP_619636.2:p.Val626Gly
XM_011518213.1:c.2465T>G XP_011516515.1:p.Val822Gly
XM_017014256.1:c.1880T>G XP_016869745.1:p.Val627Gly
NM_138691.3:c.1877T>G MANE Select NP_619636.2:p.Val626Gly