Canonical Allele Identifier: CA10575878

Gene: MMUT

Linked Data

• ClinVar Variation Id: 222918
• ClinVar RCV Id: RCV000236822 ; RCV002273989
• dbSNP Id: rs879253833
• gnomAD v4: 6-49457755-G-C
• MyVariant Identifiers: chr6:g.49425468G>C (hg19) ; chr6:g.49457755G>C (hg38)
• PubMed: PMID:25736335 ; PMID:27167370

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49457755G>C , CM000668.2:g.49457755G>C	GRCh38
NC_000006.11:g.49425468G>C , CM000668.1:g.49425468G>C	GRCh37
NC_000006.10:g.49533427G>C	NCBI36
NG_007100.1:g.10385C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.689C>G MANE Select	ENSP00000274813.3:p.Thr230Arg
ENST00000274813.3:c.689C>G	ENSP00000274813.3:p.Thr230Arg
NM_000255.3:c.689C>G	NP_000246.2:p.Thr230Arg
XM_005249143.2:c.689C>G	XP_005249200.1:p.Thr230Arg
XM_005249143.3:c.689C>G	XP_005249200.1:p.Thr230Arg
NM_000255.4:c.689C>G MANE Select	NP_000246.2:p.Thr230Arg