Canonical Allele Identifier: CA138795474
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs989055381
gnomAD v2: 6-49412196-A-T
gnomAD v3: 6-49444483-A-T
gnomAD v4: 6-49444483-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444483A>T , CM000668.2:g.49444483A>T GRCh38
NC_000006.11:g.49412196A>T , CM000668.1:g.49412196A>T GRCh37
NC_000006.10:g.49520155A>T NCBI36
NG_007100.1:g.23657T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1676+156T>A MANE Select ENSP00000274813.3:n.1676+156T>A
ENST00000274813.3:c.1676+156T>A ENSP00000274813.3:n.1676+156T>A
NM_000255.3:c.1676+156T>A NP_000246.2:n.1676+156T>A
XM_005249143.2:c.1676+156T>A XP_005249200.1:n.1676+156T>A
XM_005249143.3:c.1676+156T>A XP_005249200.1:n.1676+156T>A
NM_000255.4:c.1676+156T>A MANE Select NP_000246.2:n.1676+156T>A