Canonical Allele Identifier: CA373723994

Gene: TMC1

Linked Data

• gnomAD v4: 9-72694708-G-C
• MyVariant Identifiers: chr9:g.75309624G>C (hg19) ; chr9:g.72694708G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694708G>C , CM000671.2:g.72694708G>C	GRCh38
NC_000009.11:g.75309624G>C , CM000671.1:g.75309624G>C	GRCh37
NC_000009.10:g.74499444G>C	NCBI36
NG_008213.1:g.177908G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.230G>C MANE Select	ENSP00000297784.6:p.Arg77Thr
ENST00000644967.1:c.-83G>C	ENSP00000496159.1:n.-83G>C
ENST00000645053.1:c.-83G>C	ENSP00000493838.1:n.-83G>C
ENST00000645208.2:c.230G>C	ENSP00000494684.1:p.Arg77Thr
ENST00000645773.1:c.230G>C	ENSP00000493698.1:p.Arg77Thr
ENST00000645787.1:n.270G>C
ENST00000646244.1:n.680G>C
ENST00000646619.1:c.-83G>C	ENSP00000493726.1:n.-83G>C
ENST00000650689.1:n.654G>C
ENST00000651183.1:c.-83G>C	ENSP00000498723.1:n.-83G>C
ENST00000297784.9:c.230G>C	ENSP00000297784.5:p.Arg77Thr
ENST00000340019.4:c.230G>C	ENSP00000341433.3:p.Arg77Thr
NM_138691.2:c.230G>C	NP_619636.2:p.Arg77Thr
XM_011518213.1:c.818G>C	XP_011516515.1:p.Arg273Thr
XM_017014256.1:c.233G>C	XP_016869745.1:p.Arg78Thr
NM_138691.3:c.230G>C MANE Select	NP_619636.2:p.Arg77Thr