Canonical Allele Identifier: CA364394290
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49435481A>G
GRCh37 chr6:g.49403194A>G
Revel Score:
ENST00000274813 (MANE Select) 0.344
ENST00000540138 0.344
gnomAD v2:
6:49403194 A / G
gnomAD v4:
chr6-49435481-A-G
Joint Max Group AF 0.00000365 (SAS)
Exomes Max Group AF 0.00000385 (SAS)
ClinVar RCV:
RCV004783590
ClinVar Variation:
3375183
dbSNP:
140600746
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49435481A>G , CM000668.2:g.49435481A>G GRCh38
NC_000006.11:g.49403194A>G , CM000668.1:g.49403194A>G GRCh37
NC_000006.10:g.49511153A>G NCBI36
NG_007100.1:g.32659T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2099T>C MANE Select ENSP00000274813.3:p.Met700Thr
ENST00000274813.3:c.2099T>C ENSP00000274813.3:p.Met700Thr
NM_000255.3:c.2099T>C NP_000246.2:p.Met700Thr
XM_005249143.2:c.2099T>C XP_005249200.1:p.Met700Thr
XM_005249143.3:c.2099T>C XP_005249200.1:p.Met700Thr
NM_000255.4:c.2099T>C MANE Select NP_000246.2:p.Met700Thr
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