Canonical Allele Identifier: CA249733
Gene: MMUT HGNC NCBI
ClinVar RCV:
RCV000001965
RCV000203381
RCV001851570
ClinVar Variation:
1888
dbSNP:
121918258
gnomAD v4:
chr6-49457801-C-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
MyVariant.info:
GRCh38 chr6:g.49457801C>T
GRCh37 chr6:g.49425514C>T
Revel Score:
ENST00000274813 (MANE Select) 0.983
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457801C>T , CM000668.2:g.49457801C>T GRCh38
NC_000006.11:g.49425514C>T , CM000668.1:g.49425514C>T GRCh37
NC_000006.10:g.49533473C>T NCBI36
NG_007100.1:g.10339G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.643G>A MANE Select ENSP00000274813.3:p.Gly215Ser
ENST00000274813.3:c.643G>A ENSP00000274813.3:p.Gly215Ser
NM_000255.3:c.643G>A NP_000246.2:p.Gly215Ser
XM_005249143.2:c.643G>A XP_005249200.1:p.Gly215Ser
XM_005249143.3:c.643G>A XP_005249200.1:p.Gly215Ser
NM_000255.4:c.643G>A MANE Select NP_000246.2:p.Gly215Ser
Search 100 bp 5'
Search 100 bp 3'