Canonical Allele Identifier: CA347863
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49435481A>T
GRCh37 chr6:g.49403194A>T
Revel Score:
ENST00000274813 (MANE Select) 0.762
ENST00000540138 0.762
gnomAD v2:
6:49403194 A / T
gnomAD v3:
6:49435481 A / T
gnomAD v4:
chr6-49435481-A-T
Joint Max Group AF 0.00000953 (NFE)
Exomes Max Group AF 0.00000931 (NFE)
ClinVar RCV:
RCV000203324
RCV003556259
ClinVar Variation:
218997
dbSNP:
140600746
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2099T>A MANE Select ENSP00000274813.3:p.Met700Lys
ENST00000274813.3:c.2099T>A ENSP00000274813.3:p.Met700Lys
NM_000255.3:c.2099T>A NP_000246.2:p.Met700Lys
XM_005249143.2:c.2099T>A XP_005249200.1:p.Met700Lys
XM_005249143.3:c.2099T>A XP_005249200.1:p.Met700Lys
NM_000255.4:c.2099T>A MANE Select NP_000246.2:p.Met700Lys
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