Canonical Allele Identifier: CA2679046138
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49444510-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444510C>A , CM000668.2:g.49444510C>A GRCh38
NC_000006.11:g.49412223C>A , CM000668.1:g.49412223C>A GRCh37
NC_000006.10:g.49520182C>A NCBI36
NG_007100.1:g.23630G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1676+129G>T MANE Select ENSP00000274813.3:n.1676+129G>T
ENST00000274813.3:c.1676+129G>T ENSP00000274813.3:n.1676+129G>T
NM_000255.3:c.1676+129G>T NP_000246.2:n.1676+129G>T
XM_005249143.2:c.1676+129G>T XP_005249200.1:n.1676+129G>T
XM_005249143.3:c.1676+129G>T XP_005249200.1:n.1676+129G>T
NM_000255.4:c.1676+129G>T MANE Select NP_000246.2:n.1676+129G>T
Search 100 bp 5'
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