Canonical Allele Identifier: CA249731
Gene: MMUT HGNC NCBI
ClinVar RCV:
RCV000001963
RCV000186055
RCV000203309
RCV000587363
RCV001271716
ClinVar Variation:
1886
dbSNP:
121918256
gnomAD v2:
6:49425502 T / A
gnomAD v3:
6:49457789 T / A
gnomAD v4:
chr6-49457789-T-A
Joint Max Group AF 0.0000443 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00004527 (NFE)
MyVariant.info:
GRCh38 chr6:g.49457789T>A
GRCh37 chr6:g.49425502T>A
Revel Score:
ENST00000274813 (MANE Select) 0.978
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457789T>A , CM000668.2:g.49457789T>A GRCh38
NC_000006.11:g.49425502T>A , CM000668.1:g.49425502T>A GRCh37
NC_000006.10:g.49533461T>A NCBI36
NG_007100.1:g.10351A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.655A>T MANE Select ENSP00000274813.3:p.Asn219Tyr
ENST00000274813.3:c.655A>T ENSP00000274813.3:p.Asn219Tyr
NM_000255.3:c.655A>T NP_000246.2:p.Asn219Tyr
XM_005249143.2:c.655A>T XP_005249200.1:p.Asn219Tyr
XM_005249143.3:c.655A>T XP_005249200.1:p.Asn219Tyr
NM_000255.4:c.655A>T MANE Select NP_000246.2:p.Asn219Tyr
Search 100 bp 5'
Search 100 bp 3'