Canonical Allele Identifier: CA114683590
Gene: TRIO HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.14143769C>T
GRCh37 chr5:g.14143878C>T
Revel Score:
ENST00000344204 (MANE Select) 0.140
ENST00000537187 0.140
gnomAD v2:
5:14143878 C / T
gnomAD v3:
5:14143769 C / T
gnomAD v4:
chr5-14143769-C-T
Joint Max Group AF 0.00115199 (AFR)
Genomes Max Group AF 0.00106282 (AFR)
Exomes Max Group AF 0.00106361 (AFR)
ClinVar Allele:
1231684
ClinVar RCV:
RCV001647990
RCV002539578
ClinVar Variation:
1242140
dbSNP:
1006366530
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.14143769C>T , CM000667.2:g.14143769C>T GRCh38
NC_000005.9:g.14143878C>T , CM000667.1:g.14143878C>T GRCh37
NC_000005.8:g.14196878C>T NCBI36
NG_052962.1:g.5068C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698541.1:c.44C>T ENSP00000513786.1:p.Ser15Phe
ENST00000344204.9:c.44C>T MANE Select ENSP00000339299.4:p.Ser15Phe
ENST00000344204.8:c.44C>T ENSP00000339299.4:p.Ser15Phe
ENST00000502816.1:n.68C>T
ENST00000505971.5:n.68C>T
NM_007118.2:c.44C>T NP_009049.2:p.Ser15Phe
XM_011514113.1:c.44C>T XP_011512415.1:p.Ser15Phe
XR_241714.1:n.62C>T
NM_007118.3:c.44C>T NP_009049.2:p.Ser15Phe
NR_134469.1:n.68C>T
XM_017009801.1:c.44C>T XP_016865290.1:p.Ser15Phe
XM_017009802.1:c.44C>T XP_016865291.1:p.Ser15Phe
XR_001742236.2:n.420C>T
NM_007118.4:c.44C>T MANE Select NP_009049.2:p.Ser15Phe
NR_134469.2:n.428C>T
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