Canonical Allele Identifier: CA5081639

Gene: TMC1

Linked Data

• dbSNP Id: rs778631855
• ExAC: 9:75315535 T / C
• gnomAD v2: 9-75315535-T-C
• gnomAD v4: 9-72700619-T-C
• MyVariant Identifiers: chr9:g.75315535T>C (hg19) ; chr9:g.72700619T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700619T>C , CM000671.2:g.72700619T>C	GRCh38
NC_000009.11:g.75315535T>C , CM000671.1:g.75315535T>C	GRCh37
NC_000009.10:g.74505355T>C	NCBI36
NG_008213.1:g.183819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.338T>C MANE Select	ENSP00000297784.6:p.Met113Thr
ENST00000644967.1:c.-77+5905T>C	ENSP00000496159.1:n.-77+5905T>C
ENST00000645053.1:c.-77+5905T>C	ENSP00000493838.1:n.-77+5905T>C
ENST00000645208.2:c.338T>C	ENSP00000494684.1:p.Met113Thr
ENST00000645773.1:c.236+5905T>C	ENSP00000493698.1:n.236+5905T>C
ENST00000645787.1:n.378T>C
ENST00000646244.1:n.788T>C
ENST00000646619.1:c.-77+5905T>C	ENSP00000493726.1:n.-77+5905T>C
ENST00000650689.1:n.660+5905T>C
ENST00000651183.1:c.-77+5905T>C	ENSP00000498723.1:n.-77+5905T>C
ENST00000297784.9:c.338T>C	ENSP00000297784.5:p.Met113Thr
ENST00000340019.4:c.338T>C	ENSP00000341433.3:p.Met113Thr
NM_138691.2:c.338T>C	NP_619636.2:p.Met113Thr
XM_011518213.1:c.926T>C	XP_011516515.1:p.Met309Thr
XM_017014256.1:c.341T>C	XP_016869745.1:p.Met114Thr
NM_138691.3:c.338T>C MANE Select	NP_619636.2:p.Met113Thr