Canonical Allele Identifier: CA4503695
Gene: TRIM24 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.138584825G>T
GRCh37 chr7:g.138269570G>T
Revel Score:
ENST00000343526 (MANE Select) 0.115
ENST00000452999 0.115
ENST00000536822 0.115
ENST00000415680 0.115
gnomAD v2:
7:138269570 G / T
gnomAD v3:
7:138584825 G / T
gnomAD v4:
chr7-138584825-G-T
Joint Max Group AF 0.00487916 (NFE)
Genomes Max Group AF 0.0043085 (AMR)
Exomes Max Group AF 0.00492036 (NFE)
dbSNP:
34585297
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138584825G>T , CM000669.2:g.138584825G>T GRCh38
NC_000007.13:g.138269570G>T , CM000669.1:g.138269570G>T GRCh37
NC_000007.12:g.137920110G>T NCBI36
NG_023286.1:g.129492G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343526.9:c.3027G>T MANE Select ENSP00000340507.4:p.Arg1009Ser
ENST00000343526.8:c.3027G>T ENSP00000340507.4:p.Arg1009Ser
ENST00000415680.6:c.2925G>T ENSP00000390829.2:p.Arg975Ser
ENST00000620194.1:c.2913G>T ENSP00000484482.1:p.Arg971Ser
NM_003852.3:c.2925G>T NP_003843.3:p.Arg975Ser
NM_015905.2:c.3027G>T NP_056989.2:p.Arg1009Ser
XM_024446981.1:c.2970G>T XP_024302749.1:p.Arg990Ser
NM_015905.3:c.3027G>T MANE Select NP_056989.2:p.Arg1009Ser
NM_003852.4:c.2925G>T NP_003843.3:p.Arg975Ser
Search 100 bp 5'
Search 100 bp 3'