Canonical Allele Identifier: CA408834257

Gene: MROH8

Linked Data

• dbSNP Id: rs1400850167
• gnomAD v2: 20-35766339-A-G
• MyVariant Identifiers: chr20:g.35766339A>G (hg19) ; chr20:g.37137936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37137936A>G , CM000682.2:g.37137936A>G	GRCh38
NC_000020.10:g.35766339A>G , CM000682.1:g.35766339A>G	GRCh37
NC_000020.9:g.35199753A>G	NCBI36
NG_033795.1:g.46682T>C
NG_033795.2:g.46642T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343811.10:c.1523T>C	ENSP00000513568.1:p.Leu508Ser
ENST00000400440.7:c.1523T>C	ENSP00000513569.1:p.Leu508Ser
ENST00000421643.2:c.1418T>C	ENSP00000513570.1:p.Leu473Ser
ENST00000422138.2:c.1265T>C	ENSP00000400468.2:p.Leu422Ser
ENST00000343811.9:n.1592T>C
ENST00000343811.8:c.1603T>C
ENST00000400440.6:c.1615T>C
ENST00000400441.7:c.1523T>C	ENSP00000383291.4:p.Leu508Ser
ENST00000417458.5:c.405T>C
ENST00000421643.1:c.1527T>C