Canonical Allele Identifier: CA2540225284
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49458135-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458135A>T , CM000668.2:g.49458135A>T GRCh38
NC_000006.11:g.49425848A>T , CM000668.1:g.49425848A>T GRCh37
NC_000006.10:g.49533807A>T NCBI36
NG_007100.1:g.10005T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.386-77T>A MANE Select ENSP00000274813.3:n.386-77T>A
ENST00000274813.3:c.386-77T>A ENSP00000274813.3:n.386-77T>A
NM_000255.3:c.386-77T>A NP_000246.2:n.386-77T>A
XM_005249143.2:c.386-77T>A XP_005249200.1:n.386-77T>A
XM_005249143.3:c.386-77T>A XP_005249200.1:n.386-77T>A
NM_000255.4:c.386-77T>A MANE Select NP_000246.2:n.386-77T>A