Canonical Allele Identifier: CA193290469

Gene: TMC1

Linked Data

• dbSNP Id: rs1017313099
• MyVariant Identifiers: chr9:g.75420422G>C (hg19) ; chr9:g.72805506G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805506G>C , CM000671.2:g.72805506G>C	GRCh38
NC_000009.11:g.75420422G>C , CM000671.1:g.75420422G>C	GRCh37
NC_000009.10:g.74610242G>C	NCBI36
NG_008213.1:g.288706G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1691G>C MANE Select	ENSP00000297784.6:p.Gly564Ala
ENST00000644967.1:c.1253G>C	ENSP00000496159.1:p.Gly418Ala
ENST00000645053.1:c.1253G>C	ENSP00000493838.1:p.Gly418Ala
ENST00000645208.2:c.1691G>C	ENSP00000494684.1:p.Gly564Ala
ENST00000645773.1:c.1565G>C	ENSP00000493698.1:p.Gly522Ala
ENST00000645787.1:n.1834G>C
ENST00000646619.1:c.1253G>C	ENSP00000493726.1:p.Gly418Ala
ENST00000651183.1:c.1253G>C	ENSP00000498723.1:p.Gly418Ala
ENST00000297784.9:c.1691G>C	ENSP00000297784.5:p.Gly564Ala
ENST00000340019.4:c.1691G>C	ENSP00000341433.3:p.Gly564Ala
ENST00000486417.5:n.315G>C
NM_138691.2:c.1691G>C	NP_619636.2:p.Gly564Ala
XM_011518213.1:c.2279G>C	XP_011516515.1:p.Gly760Ala
XM_017014256.1:c.1694G>C	XP_016869745.1:p.Gly565Ala
NM_138691.3:c.1691G>C MANE Select	NP_619636.2:p.Gly564Ala