Canonical Allele Identifier: CA3847068
Gene: MMUT HGNC NCBI
gnomAD v2:
6:49425464 G / GT
gnomAD v3:
6:49457751 G / GT
gnomAD v4:
chr6-49457751-G-GT
Joint Max Group AF 0.00001428 (SAS)
Genomes Max Group AF 0.00007287 (SAS)
Exomes Max Group AF 0.00000386 (SAS)
ClinVar RCV:
RCV000235526
ClinVar Variation:
222919
dbSNP:
747777227
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457752dup , CM000668.2:g.49457752dup GRCh38
NC_000006.11:g.49425465dup , CM000668.1:g.49425465dup GRCh37
NC_000006.10:g.49533424dup NCBI36
NG_007100.1:g.10388dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.692dup MANE Select ENSP00000274813.3:p.Tyr231Ter
ENST00000274813.3:c.692dup ENSP00000274813.3:p.Tyr231Ter
NM_000255.3:c.692dup NP_000246.2:p.Tyr231Ter
XM_005249143.2:c.692dup XP_005249200.1:p.Tyr231Ter
XM_005249143.3:c.692dup XP_005249200.1:p.Tyr231Ter
NM_000255.4:c.692dup MANE Select NP_000246.2:p.Tyr231Ter
Search 100 bp 5'
Search 100 bp 3'