Canonical Allele Identifier: CA5081914

Gene: TMC1

Linked Data

• ClinVar Variation Id: 2888061
• ClinVar RCV Id: RCV003724667
• dbSNP Id: rs765507648
• ExAC: 9:75406852 C / T
• gnomAD v2: 9-75406852-C-T
• gnomAD v3: 9-72791936-C-T
• gnomAD v4: 9-72791936-C-T
• MyVariant Identifiers: chr9:g.75406852C>T (hg19) ; chr9:g.72791936C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791936C>T , CM000671.2:g.72791936C>T	GRCh38
NC_000009.11:g.75406852C>T , CM000671.1:g.75406852C>T	GRCh37
NC_000009.10:g.74596672C>T	NCBI36
NG_008213.1:g.275136C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1275C>T MANE Select	ENSP00000297784.6:p.Asp425=
ENST00000644967.1:c.837C>T	ENSP00000496159.1:p.Asp279=
ENST00000645053.1:c.837C>T	ENSP00000493838.1:p.Asp279=
ENST00000645208.2:c.1275C>T	ENSP00000494684.1:p.Asp425=
ENST00000645773.1:c.1149C>T	ENSP00000493698.1:p.Asp383=
ENST00000645787.1:n.1315C>T
ENST00000646619.1:c.837C>T	ENSP00000493726.1:p.Asp279=
ENST00000650689.1:n.1573C>T
ENST00000651183.1:c.837C>T	ENSP00000498723.1:p.Asp279=
ENST00000297784.9:c.1275C>T	ENSP00000297784.5:p.Asp425=
ENST00000340019.4:c.1275C>T	ENSP00000341433.3:p.Asp425=
NM_138691.2:c.1275C>T	NP_619636.2:p.Asp425=
XM_011518213.1:c.1863C>T	XP_011516515.1:p.Asp621=
XM_017014256.1:c.1278C>T	XP_016869745.1:p.Asp426=
NM_138691.3:c.1275C>T MANE Select	NP_619636.2:p.Asp425=