Canonical Allele Identifier: CA373722715

Gene: TMC1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72648665G>C , CM000671.2:g.72648665G>C	GRCh38
NC_000009.11:g.75263581G>C , CM000671.1:g.75263581G>C	GRCh37
NC_000009.10:g.74453401G>C	NCBI36
NG_008213.1:g.131865G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.16+1G>C MANE Select	ENSP00000297784.6:n.16+1G>C
ENST00000644967.1:c.-297+20602G>C	ENSP00000496159.1:n.-297+20602G>C
ENST00000645053.1:c.-297+20602G>C	ENSP00000493838.1:n.-297+20602G>C
ENST00000645208.2:c.16+1G>C	ENSP00000494684.1:n.16+1G>C
ENST00000645773.1:c.16+1G>C	ENSP00000493698.1:n.16+1G>C
ENST00000645787.1:n.44+20602G>C
ENST00000646244.1:n.466+20602G>C
ENST00000646619.1:c.-297+20602G>C	ENSP00000493726.1:n.-297+20602G>C
ENST00000650689.1:n.440+20602G>C
ENST00000651183.1:c.-297+32188G>C	ENSP00000498723.1:n.-297+32188G>C
ENST00000651743.1:n.558+1G>C
ENST00000297784.9:c.16+1G>C	ENSP00000297784.5:n.16+1G>C
ENST00000340019.4:c.16+1G>C	ENSP00000341433.3:n.16+1G>C
ENST00000492418.1:n.107+1G>C
NM_138691.2:c.16+1G>C	NP_619636.2:n.16+1G>C
XM_011518213.1:c.604+20602G>C	XP_011516515.1:n.604+20602G>C
XM_017014256.1:c.19+32188G>C	XP_016869745.1:n.19+32188G>C
NM_138691.3:c.16+1G>C MANE Select	NP_619636.2:n.16+1G>C