Canonical Allele Identifier: CA373667626
Gene: TMC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2443844
ClinVar RCV Id: RCV003152452
MyVariant Identifiers: chr9:g.75420358G>A (hg19) chr9:g.72805442G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72805442G>A , CM000671.2:g.72805442G>A GRCh38
NC_000009.11:g.75420358G>A , CM000671.1:g.75420358G>A GRCh37
NC_000009.10:g.74610178G>A NCBI36
NG_008213.1:g.288642G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.1627G>A MANE Select ENSP00000297784.6:p.Asp543Asn
ENST00000644967.1:c.1189G>A ENSP00000496159.1:p.Asp397Asn
ENST00000645053.1:c.1189G>A ENSP00000493838.1:p.Asp397Asn
ENST00000645208.2:c.1627G>A ENSP00000494684.1:p.Asp543Asn
ENST00000645773.1:c.1501G>A ENSP00000493698.1:p.Asp501Asn
ENST00000645787.1:n.1770G>A
ENST00000646619.1:c.1189G>A ENSP00000493726.1:p.Asp397Asn
ENST00000651183.1:c.1189G>A ENSP00000498723.1:p.Asp397Asn
ENST00000297784.9:c.1627G>A ENSP00000297784.5:p.Asp543Asn
ENST00000340019.4:c.1627G>A ENSP00000341433.3:p.Asp543Asn
ENST00000486417.5:n.251G>A
NM_138691.2:c.1627G>A NP_619636.2:p.Asp543Asn
XM_011518213.1:c.2215G>A XP_011516515.1:p.Asp739Asn
XM_017014256.1:c.1630G>A XP_016869745.1:p.Asp544Asn
NM_138691.3:c.1627G>A MANE Select NP_619636.2:p.Asp543Asn
Search 100 bp 5'
Search 100 bp 3'