Canonical Allele Identifier: CA12965082

Gene: TMOD1

Linked Data

• dbSNP Id: rs1052270
• gnomAD v2: 9-100275424-C-T
• gnomAD v3: 9-97513142-C-T
• gnomAD v4: 9-97513142-C-T
• MyVariant Identifiers: chr9:g.100275424C>T (hg19) ; chr9:g.97513142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97513142C>T , CM000671.2:g.97513142C>T	GRCh38
NC_000009.11:g.100275424C>T , CM000671.1:g.100275424C>T	GRCh37
NC_000009.10:g.99315245C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000259365.9:c.-48-10999C>T MANE Select	ENSP00000259365.3:n.-48-10999C>T
ENST00000259365.8:c.-48-10999C>T	ENSP00000259365.3:n.-48-10999C>T
ENST00000395211.6:c.-48-10999C>T	ENSP00000378637.2:n.-48-10999C>T
NM_001166116.1:c.-48-10999C>T	NP_001159588.1:n.-48-10999C>T
NM_003275.3:c.-48-10999C>T	NP_003266.1:n.-48-10999C>T
XR_930157.1:n.902G>A
XM_024447660.1:c.-299-10999C>T	XP_024303428.1:n.-299-10999C>T
XR_930157.2:n.827G>A
NM_003275.4:c.-48-10999C>T MANE Select	NP_003266.1:n.-48-10999C>T
NM_001166116.2:c.-48-10999C>T	NP_001159588.1:n.-48-10999C>T