Canonical Allele Identifier: CA12965082
Gene: TMOD1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.97513142C>T
GRCh37 chr9:g.100275424C>T
gnomAD v2:
9:100275424 C / T
gnomAD v3:
9:97513142 C / T
gnomAD v4:
chr9-97513142-C-T
Joint Max Group AF 0.57066491 (NFE)
Genomes Max Group AF 0.57066268 (NFE)
Exomes Max Group AF 0.273776 (NFE)
dbSNP:
1052270
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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
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