Canonical Allele Identifier: CA9846355
Gene: MROH8 HGNC NCBI

Linked Data

dbSNP Id: rs754895212
ExAC: 20:35766342 T / A
gnomAD v2: 20-35766342-T-A
gnomAD v4: 20-37137939-T-A
MyVariant Identifiers: chr20:g.35766342T>A (hg19) chr20:g.37137939T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.37137939T>A , CM000682.2:g.37137939T>A GRCh38
NC_000020.10:g.35766342T>A , CM000682.1:g.35766342T>A GRCh37
NC_000020.9:g.35199756T>A NCBI36
NG_033795.1:g.46679A>T
NG_033795.2:g.46639A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343811.10:c.1520A>T ENSP00000513568.1:p.Gln507Leu
ENST00000400440.7:c.1520A>T ENSP00000513569.1:p.Gln507Leu
ENST00000421643.2:c.1415A>T ENSP00000513570.1:p.Gln472Leu
ENST00000422138.2:c.1262A>T ENSP00000400468.2:p.Gln421Leu
ENST00000343811.9:n.1589A>T
ENST00000343811.8:c.1600A>T
ENST00000400440.6:c.1612A>T
ENST00000400441.7:c.1520A>T ENSP00000383291.4:p.Gln507Leu
ENST00000417458.5:c.402A>T
ENST00000421643.1:c.1524A>T
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