Canonical Allele Identifier: CA408834261
Gene: MROH8 HGNC NCBI

Linked Data

dbSNP Id: rs1469089892
gnomAD v2: 20-35766341-C-G
gnomAD v3: 20-37137938-C-G
gnomAD v4: 20-37137938-C-G
MyVariant Identifiers: chr20:g.35766341C>G (hg19) chr20:g.37137938C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37137938C>G , CM000682.2:g.37137938C>G GRCh38
NC_000020.10:g.35766341C>G , CM000682.1:g.35766341C>G GRCh37
NC_000020.9:g.35199755C>G NCBI36
NG_033795.1:g.46680G>C
NG_033795.2:g.46640G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343811.10:c.1521G>C ENSP00000513568.1:p.Gln507His
ENST00000400440.7:c.1521G>C ENSP00000513569.1:p.Gln507His
ENST00000421643.2:c.1416G>C ENSP00000513570.1:p.Gln472His
ENST00000422138.2:c.1263G>C ENSP00000400468.2:p.Gln421His
ENST00000343811.9:n.1590G>C
ENST00000343811.8:c.1601G>C
ENST00000400440.6:c.1613G>C
ENST00000400441.7:c.1521G>C ENSP00000383291.4:p.Gln507His
ENST00000417458.5:c.403G>C
ENST00000421643.1:c.1525G>C
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