Canonical Allele Identifier: CA373723750
Gene: TMC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72694600A>C , CM000671.2:g.72694600A>C GRCh38
NC_000009.11:g.75309516A>C , CM000671.1:g.75309516A>C GRCh37
NC_000009.10:g.74499336A>C NCBI36
NG_008213.1:g.177800A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.122A>C MANE Select ENSP00000297784.6:p.Lys41Thr
ENST00000644967.1:c.-191A>C ENSP00000496159.1:n.-191A>C
ENST00000645053.1:c.-191A>C ENSP00000493838.1:n.-191A>C
ENST00000645208.2:c.122A>C ENSP00000494684.1:p.Lys41Thr
ENST00000645773.1:c.122A>C ENSP00000493698.1:p.Lys41Thr
ENST00000645787.1:n.162A>C
ENST00000646244.1:n.572A>C
ENST00000646619.1:c.-191A>C ENSP00000493726.1:n.-191A>C
ENST00000650689.1:n.546A>C
ENST00000651183.1:c.-191A>C ENSP00000498723.1:n.-191A>C
ENST00000297784.9:c.122A>C ENSP00000297784.5:p.Lys41Thr
ENST00000340019.4:c.122A>C ENSP00000341433.3:p.Lys41Thr
NM_138691.2:c.122A>C NP_619636.2:p.Lys41Thr
XM_011518213.1:c.710A>C XP_011516515.1:p.Lys237Thr
XM_017014256.1:c.125A>C XP_016869745.1:p.Lys42Thr
NM_138691.3:c.122A>C MANE Select NP_619636.2:p.Lys41Thr