Canonical Allele Identifier: CA1627387655
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767448301
gnomAD v4: 6-49447788-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447788G>A , CM000668.2:g.49447788G>A GRCh38
NC_000006.11:g.49415501G>A , CM000668.1:g.49415501G>A GRCh37
NC_000006.10:g.49523460G>A NCBI36
NG_007100.1:g.20352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1445-3C>T MANE Select ENSP00000274813.3:n.1445-3C>T
ENST00000274813.3:c.1445-3C>T ENSP00000274813.3:n.1445-3C>T
NM_000255.3:c.1445-3C>T NP_000246.2:n.1445-3C>T
XM_005249143.2:c.1445-3C>T XP_005249200.1:n.1445-3C>T
XM_005249143.3:c.1445-3C>T XP_005249200.1:n.1445-3C>T
NM_000255.4:c.1445-3C>T MANE Select NP_000246.2:n.1445-3C>T