ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA9846354
Gene: MROH8
HGNC
NCBI
Linked Data
dbSNP Id:
rs8115854
ExAC:
20:35766337 A / G
gnomAD v2:
20-35766337-A-G
gnomAD v3:
20-37137934-A-G
gnomAD v4:
20-37137934-A-G
MyVariant Identifiers:
chr20:g.35766337A>G (hg19)
chr20:g.37137934A>G (hg38)
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
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