Canonical Allele Identifier: CA3847069
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2006330
ClinVar RCV Id: RCV002811689
dbSNP Id: rs749137376
ExAC: 6:49425470 A / G
gnomAD v2: 6-49425470-A-G
gnomAD v4: 6-49457757-A-G
MyVariant Identifiers: chr6:g.49425470A>G (hg19) chr6:g.49457757A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457757A>G , CM000668.2:g.49457757A>G GRCh38
NC_000006.11:g.49425470A>G , CM000668.1:g.49425470A>G GRCh37
NC_000006.10:g.49533429A>G NCBI36
NG_007100.1:g.10383T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.687T>C MANE Select ENSP00000274813.3:p.Asn229=
ENST00000274813.3:c.687T>C ENSP00000274813.3:p.Asn229=
NM_000255.3:c.687T>C NP_000246.2:p.Asn229=
XM_005249143.2:c.687T>C XP_005249200.1:p.Asn229=
XM_005249143.3:c.687T>C XP_005249200.1:p.Asn229=
NM_000255.4:c.687T>C MANE Select NP_000246.2:p.Asn229=
Search 100 bp 5'
Search 100 bp 3'