×
SERVICES INTERRUPTION:
2026-08-07T10:00:00-0500
—
2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1627387653
Community Standard Title: NM_000255.4(MMUT):c.1445-2A=
Gene: MMUT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.49447787T= , CM000668.2:g.49447787T=
GRCh38
NC_000006.11:g.49415500T= , CM000668.1:g.49415500T=
GRCh37
NC_000006.10:g.49523459T=
NCBI36
NG_007100.1:g.20353A=
Transcript Alleles
HGVS
Amino-acid Change
NM_000255.4:c.1445-2A=
MANE Select
NP_000246.2:n.1445-2A=
ENST00000274813.4:c.1445-2A=
MANE Select
ENSP00000274813.3:n.1445-2A=
NM_000255.3:c.1445-2A=
NP_000246.2:n.1445-2A=
ENST00000274813.3:c.1445-2A=
ENSP00000274813.3:n.1445-2A=
XM_005249143.2:c.1445-2A=
XP_005249200.1:n.1445-2A=
XM_005249143.3:c.1445-2A=
XP_005249200.1:n.1445-2A=
Search 100 bp 5'
Search 100 bp 3'