Canonical Allele Identifier: CA312771
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49440277T>C
GRCh37 chr6:g.49407990T>C
Revel Score:
ENST00000274813 (MANE Select) 0.964
ENST00000540138 0.964
ClinVar RCV:
RCV000186051
ClinVar Variation:
203851
dbSNP:
796052004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49440277T>C , CM000668.2:g.49440277T>C GRCh38
NC_000006.11:g.49407990T>C , CM000668.1:g.49407990T>C GRCh37
NC_000006.10:g.49515949T>C NCBI36
NG_007100.1:g.27863A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1885A>G MANE Select ENSP00000274813.3:p.Arg629Gly
ENST00000274813.3:c.1885A>G ENSP00000274813.3:p.Arg629Gly
NM_000255.3:c.1885A>G NP_000246.2:p.Arg629Gly
XM_005249143.2:c.1885A>G XP_005249200.1:p.Arg629Gly
XM_005249143.3:c.1885A>G XP_005249200.1:p.Arg629Gly
NM_000255.4:c.1885A>G MANE Select NP_000246.2:p.Arg629Gly
Search 100 bp 5'
Search 100 bp 3'