Canonical Allele Identifier: CA408834278

Gene: MROH8

Linked Data

• dbSNP Id: rs1360545294
• gnomAD v2: 20-35766348-C-T
• gnomAD v4: 20-37137945-C-T
• MyVariant Identifiers: chr20:g.35766348C>T (hg19) ; chr20:g.37137945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37137945C>T , CM000682.2:g.37137945C>T	GRCh38
NC_000020.10:g.35766348C>T , CM000682.1:g.35766348C>T	GRCh37
NC_000020.9:g.35199762C>T	NCBI36
NG_033795.1:g.46673G>A
NG_033795.2:g.46633G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343811.10:c.1514G>A	ENSP00000513568.1:p.Cys505Tyr
ENST00000400440.7:c.1514G>A	ENSP00000513569.1:p.Cys505Tyr
ENST00000421643.2:c.1409G>A	ENSP00000513570.1:p.Cys470Tyr
ENST00000422138.2:c.1256G>A	ENSP00000400468.2:p.Cys419Tyr
ENST00000343811.9:n.1583G>A
ENST00000343811.8:c.1594G>A
ENST00000400440.6:c.1606G>A
ENST00000400441.7:c.1514G>A	ENSP00000383291.4:p.Cys505Tyr
ENST00000417458.5:c.396G>A
ENST00000421643.1:c.1518G>A