Canonical Allele Identifier: CA9846356

Gene: MROH8

Linked Data

• dbSNP Id: rs376057925
• ExAC: 20:35766351 A / G
• gnomAD v2: 20-35766351-A-G
• gnomAD v3: 20-37137948-A-G
• gnomAD v4: 20-37137948-A-G
• MyVariant Identifiers: chr20:g.35766351A>G (hg19) ; chr20:g.37137948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37137948A>G , CM000682.2:g.37137948A>G	GRCh38
NC_000020.10:g.35766351A>G , CM000682.1:g.35766351A>G	GRCh37
NC_000020.9:g.35199765A>G	NCBI36
NG_033795.1:g.46670T>C
NG_033795.2:g.46630T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343811.10:c.1511T>C	ENSP00000513568.1:p.Ile504Thr
ENST00000400440.7:c.1511T>C	ENSP00000513569.1:p.Ile504Thr
ENST00000421643.2:c.1406T>C	ENSP00000513570.1:p.Ile469Thr
ENST00000422138.2:c.1253T>C	ENSP00000400468.2:p.Ile418Thr
ENST00000343811.9:n.1580T>C
ENST00000343811.8:c.1591T>C
ENST00000400440.6:c.1603T>C
ENST00000400441.7:c.1511T>C	ENSP00000383291.4:p.Ile504Thr
ENST00000417458.5:c.393T>C
ENST00000421643.1:c.1515T>C