Canonical Allele Identifier: CA3847091
Gene: MMUT HGNC NCBI
ClinVar RCV:
RCV000236505
RCV001853320
ClinVar Variation:
222915
dbSNP:
200908035
gnomAD v2:
6:49425591 T / A
gnomAD v4:
chr6-49457878-T-A
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
MyVariant.info:
GRCh38 chr6:g.49457878T>A
GRCh37 chr6:g.49425591T>A
Revel Score:
ENST00000274813 (MANE Select) 0.935
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457878T>A , CM000668.2:g.49457878T>A GRCh38
NC_000006.11:g.49425591T>A , CM000668.1:g.49425591T>A GRCh37
NC_000006.10:g.49533550T>A NCBI36
NG_007100.1:g.10262A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.566A>T MANE Select ENSP00000274813.3:p.Asn189Ile
ENST00000274813.3:c.566A>T ENSP00000274813.3:p.Asn189Ile
NM_000255.3:c.566A>T NP_000246.2:p.Asn189Ile
XM_005249143.2:c.566A>T XP_005249200.1:p.Asn189Ile
XM_005249143.3:c.566A>T XP_005249200.1:p.Asn189Ile
NM_000255.4:c.566A>T MANE Select NP_000246.2:p.Asn189Ile
Search 100 bp 5'
Search 100 bp 3'