Canonical Allele Identifier: CA10575875
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49456141C>T
GRCh37 chr6:g.49423854C>T
Revel Score:
ENST00000274813 (MANE Select) 0.982
ClinVar RCV:
RCV000235506
RCV002517408
ClinVar Variation:
222922
dbSNP:
761477436
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49456141C>T , CM000668.2:g.49456141C>T GRCh38
NC_000006.11:g.49423854C>T , CM000668.1:g.49423854C>T GRCh37
NC_000006.10:g.49531813C>T NCBI36
NG_007100.1:g.11999G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.850G>A MANE Select ENSP00000274813.3:p.Gly284Arg
ENST00000274813.3:c.850G>A ENSP00000274813.3:p.Gly284Arg
NM_000255.3:c.850G>A NP_000246.2:p.Gly284Arg
XM_005249143.2:c.850G>A XP_005249200.1:p.Gly284Arg
XM_005249143.3:c.850G>A XP_005249200.1:p.Gly284Arg
NM_000255.4:c.850G>A MANE Select NP_000246.2:p.Gly284Arg
Search 100 bp 5'
Search 100 bp 3'