Canonical Allele Identifier: CA373667776

Gene: TMC1

Linked Data

• gnomAD v3: 9-72805505-G-T
• gnomAD v4: 9-72805505-G-T
• MyVariant Identifiers: chr9:g.75420421G>T (hg19) ; chr9:g.72805505G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805505G>T , CM000671.2:g.72805505G>T	GRCh38
NC_000009.11:g.75420421G>T , CM000671.1:g.75420421G>T	GRCh37
NC_000009.10:g.74610241G>T	NCBI36
NG_008213.1:g.288705G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1690G>T MANE Select	ENSP00000297784.6:p.Gly564Ter
ENST00000644967.1:c.1252G>T	ENSP00000496159.1:p.Gly418Ter
ENST00000645053.1:c.1252G>T	ENSP00000493838.1:p.Gly418Ter
ENST00000645208.2:c.1690G>T	ENSP00000494684.1:p.Gly564Ter
ENST00000645773.1:c.1564G>T	ENSP00000493698.1:p.Gly522Ter
ENST00000645787.1:n.1833G>T
ENST00000646619.1:c.1252G>T	ENSP00000493726.1:p.Gly418Ter
ENST00000651183.1:c.1252G>T	ENSP00000498723.1:p.Gly418Ter
ENST00000297784.9:c.1690G>T	ENSP00000297784.5:p.Gly564Ter
ENST00000340019.4:c.1690G>T	ENSP00000341433.3:p.Gly564Ter
ENST00000486417.5:n.314G>T
NM_138691.2:c.1690G>T	NP_619636.2:p.Gly564Ter
XM_011518213.1:c.2278G>T	XP_011516515.1:p.Gly760Ter
XM_017014256.1:c.1693G>T	XP_016869745.1:p.Gly565Ter
NM_138691.3:c.1690G>T MANE Select	NP_619636.2:p.Gly564Ter