Canonical Allele Identifier: CA3847103
Gene: MMUT HGNC NCBI
ClinVar RCV:
RCV000235227
ClinVar Variation:
222913
dbSNP:
757000253
gnomAD v2:
6:49425690 T / A
gnomAD v4:
chr6-49457977-T-A
MyVariant.info:
GRCh38 chr6:g.49457977T>A
GRCh37 chr6:g.49425690T>A
Revel Score:
ENST00000274813 (MANE Select) 0.968
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457977T>A , CM000668.2:g.49457977T>A GRCh38
NC_000006.11:g.49425690T>A , CM000668.1:g.49425690T>A GRCh37
NC_000006.10:g.49533649T>A NCBI36
NG_007100.1:g.10163A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.467A>T MANE Select ENSP00000274813.3:p.Asp156Val
ENST00000274813.3:c.467A>T ENSP00000274813.3:p.Asp156Val
NM_000255.3:c.467A>T NP_000246.2:p.Asp156Val
XM_005249143.2:c.467A>T XP_005249200.1:p.Asp156Val
XM_005249143.3:c.467A>T XP_005249200.1:p.Asp156Val
NM_000255.4:c.467A>T MANE Select NP_000246.2:p.Asp156Val
Search 100 bp 5'
Search 100 bp 3'