Canonical Allele Identifier: CA9846354
Gene: MROH8 HGNC NCBI
COSMIC:
COSM4984878 (not active)
MyVariant.info:
GRCh38 chr20:g.37137934A>G
GRCh37 chr20:g.35766337A>G
Revel Score:
ENST00000417458 0.012
ENST00000421643 0.012
ENST00000441008 0.192
ENST00000400441 0.192
ENST00000217333 0.192
gnomAD v2:
20:35766337 A / G
gnomAD v3:
20:37137934 A / G
gnomAD v4:
chr20-37137934-A-G
Joint Max Group AF 0.51658308 (AFR)
Genomes Max Group AF 0.5141854 (AFR)
Exomes Max Group AF 0.51561838 (AFR)
dbSNP:
8115854
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37137934A>G , CM000682.2:g.37137934A>G GRCh38
NC_000020.10:g.35766337A>G , CM000682.1:g.35766337A>G GRCh37
NC_000020.9:g.35199751A>G NCBI36
NG_033795.1:g.46684T>C
NG_033795.2:g.46644T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343811.10:c.1525T>C ENSP00000513568.1:p.Ser509Pro
ENST00000400440.7:c.1525T>C ENSP00000513569.1:p.Ser509Pro
ENST00000421643.2:c.1420T>C ENSP00000513570.1:p.Ser474Pro
ENST00000422138.2:c.1267T>C ENSP00000400468.2:p.Ser423Pro
ENST00000343811.9:n.1594T>C
ENST00000343811.8:c.1605T>C
ENST00000400440.6:c.1617T>C
ENST00000400441.7:c.1525T>C ENSP00000383291.4:p.Ser509Pro
ENST00000417458.5:c.407T>C
ENST00000421643.1:c.1529T>C
Search 100 bp 5'
Search 100 bp 3'