Canonical Allele Identifier: CA3846974
Gene: MMUT HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.49453583A>T
GRCh37 chr6:g.49421296A>T
gnomAD v2:
6:49421296 A / T
gnomAD v3:
6:49453583 A / T
gnomAD v4:
chr6-49453583-A-T
Joint Max Group AF 0.00001071 (AFR)
Genomes Max Group AF 0.00000801 (AFR)
ClinVar RCV:
RCV000586630
RCV003558446
ClinVar Variation:
495775
dbSNP:
746085723
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49453583A>T , CM000668.2:g.49453583A>T GRCh38
NC_000006.11:g.49421296A>T , CM000668.1:g.49421296A>T GRCh37
NC_000006.10:g.49529255A>T NCBI36
NG_007100.1:g.14557T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1083+2T>A MANE Select ENSP00000274813.3:n.1083+2T>A
ENST00000274813.3:c.1083+2T>A ENSP00000274813.3:n.1083+2T>A
NM_000255.3:c.1083+2T>A NP_000246.2:n.1083+2T>A
XM_005249143.2:c.1083+2T>A XP_005249200.1:n.1083+2T>A
XM_005249143.3:c.1083+2T>A XP_005249200.1:n.1083+2T>A
NM_000255.4:c.1083+2T>A MANE Select NP_000246.2:n.1083+2T>A
Search 100 bp 5'
Search 100 bp 3'