Canonical Allele Identifier: CA12994156
Gene: TMOD1 HGNC NCBI
COSMIC:
COSN14774628 (not active)
MyVariant.info:
GRCh38 chr9:g.97553948C>T
GRCh37 chr9:g.100316230C>T
gnomAD v2:
9:100316230 C / T
gnomAD v3:
9:97553948 C / T
gnomAD v4:
chr9-97553948-C-T
Joint Max Group AF 0.58547041 (AFR)
Genomes Max Group AF 0.58547041 (AFR)
dbSNP:
1475545
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97553948C>T , CM000671.2:g.97553948C>T GRCh38
NC_000009.11:g.100316230C>T , CM000671.1:g.100316230C>T GRCh37
NC_000009.10:g.99356051C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000259365.9:c.397+548C>T MANE Select ENSP00000259365.3:n.397+548C>T
ENST00000259365.8:c.397+548C>T ENSP00000259365.3:n.397+548C>T
ENST00000395211.6:c.397+548C>T ENSP00000378637.2:n.397+548C>T
NM_001166116.1:c.397+548C>T NP_001159588.1:n.397+548C>T
NM_003275.3:c.397+548C>T NP_003266.1:n.397+548C>T
XM_024447660.1:c.-12+548C>T XP_024303428.1:n.-12+548C>T
NM_003275.4:c.397+548C>T MANE Select NP_003266.1:n.397+548C>T
NM_001166116.2:c.397+548C>T NP_001159588.1:n.397+548C>T
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