Canonical Allele Identifier: CA10575878
Gene: MMUT HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'