Canonical Allele Identifier: CA3847090
Gene: MMUT HGNC NCBI
ClinVar RCV:
RCV000642163
RCV001391324
RCV003928091
ClinVar Variation:
534567
dbSNP:
200908035
gnomAD v2:
6:49425591 T / C
gnomAD v3:
6:49457878 T / C
gnomAD v4:
chr6-49457878-T-C
Joint Max Group AF 0.0031154 (EAS)
Genomes Max Group AF 0.00565478 (EAS)
Exomes Max Group AF 0.00260783 (EAS)
MyVariant.info:
GRCh38 chr6:g.49457878T>C
GRCh37 chr6:g.49425591T>C
Revel Score:
ENST00000274813 (MANE Select) 0.917
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.566A>G MANE Select ENSP00000274813.3:p.Asn189Ser
ENST00000274813.3:c.566A>G ENSP00000274813.3:p.Asn189Ser
NM_000255.3:c.566A>G NP_000246.2:p.Asn189Ser
XM_005249143.2:c.566A>G XP_005249200.1:p.Asn189Ser
XM_005249143.3:c.566A>G XP_005249200.1:p.Asn189Ser
NM_000255.4:c.566A>G MANE Select NP_000246.2:p.Asn189Ser
Search 100 bp 5'
Search 100 bp 3'