Canonical Allele Identifier: CA10633923

Gene: TMC1

Linked Data

• ClinVar Variation Id: 367244
• ClinVar RCV Id: RCV000357912 ; RCV000406852
• dbSNP Id: rs112220638
• gnomAD v2: 9-75136717-C-T
• gnomAD v3: 9-72521801-C-T
• gnomAD v4: 9-72521801-C-T
• MyVariant Identifiers: chr9:g.75136717C>T (hg19) ; chr9:g.72521801C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72521801C>T , CM000671.2:g.72521801C>T	GRCh38
NC_000009.11:g.75136717C>T , CM000671.1:g.75136717C>T	GRCh37
NC_000009.10:g.74326537C>T	NCBI36
NG_008213.1:g.5001C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.-540C>T MANE Select	ENSP00000297784.6:n.-540C>T
ENST00000643676.1:n.194C>T
ENST00000297784.9:c.-540C>T	ENSP00000297784.5:n.-540C>T
NM_138691.2:c.-540C>T	NP_619636.2:n.-540C>T
XR_242620.2:n.802+1754G>A
NM_138691.3:c.-540C>T MANE Select	NP_619636.2:n.-540C>T