Canonical Allele Identifier: CA373497812

Gene: TMC1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72751936A>C , CM000671.2:g.72751936A>C	GRCh38
NC_000009.11:g.75366852A>C , CM000671.1:g.75366852A>C	GRCh37
NC_000009.10:g.74556672A>C	NCBI36
NG_008213.1:g.235136A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.622A>C MANE Select	ENSP00000297784.6:p.Ser208Arg
ENST00000644967.1:c.184A>C	ENSP00000496159.1:p.Ser62Arg
ENST00000645053.1:c.184A>C	ENSP00000493838.1:p.Ser62Arg
ENST00000645208.2:c.622A>C	ENSP00000494684.1:p.Ser208Arg
ENST00000645773.1:c.496A>C	ENSP00000493698.1:p.Ser166Arg
ENST00000645787.1:n.662A>C
ENST00000646619.1:c.184A>C	ENSP00000493726.1:p.Ser62Arg
ENST00000650689.1:n.920A>C
ENST00000651183.1:c.184A>C	ENSP00000498723.1:p.Ser62Arg
ENST00000297784.9:c.622A>C	ENSP00000297784.5:p.Ser208Arg
ENST00000340019.4:c.622A>C	ENSP00000341433.3:p.Ser208Arg
NM_138691.2:c.622A>C	NP_619636.2:p.Ser208Arg
XM_011518213.1:c.1210A>C	XP_011516515.1:p.Ser404Arg
XM_017014256.1:c.625A>C	XP_016869745.1:p.Ser209Arg
NM_138691.3:c.622A>C MANE Select	NP_619636.2:p.Ser208Arg