Canonical Allele Identifier: CA567155982
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1306501124
gnomAD v2: 6-49425802-T-A
gnomAD v3: 6-49458089-T-A
gnomAD v4: 6-49458089-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458089T>A , CM000668.2:g.49458089T>A GRCh38
NC_000006.11:g.49425802T>A , CM000668.1:g.49425802T>A GRCh37
NC_000006.10:g.49533761T>A NCBI36
NG_007100.1:g.10051A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.386-31A>T MANE Select ENSP00000274813.3:n.386-31A>T
ENST00000274813.3:c.386-31A>T ENSP00000274813.3:n.386-31A>T
NM_000255.3:c.386-31A>T NP_000246.2:n.386-31A>T
XM_005249143.2:c.386-31A>T XP_005249200.1:n.386-31A>T
XM_005249143.3:c.386-31A>T XP_005249200.1:n.386-31A>T
NM_000255.4:c.386-31A>T MANE Select NP_000246.2:n.386-31A>T