Canonical Allele Identifier: CA2578675222
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49458984-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458984G>T , CM000668.2:g.49458984G>T GRCh38
NC_000006.11:g.49426697G>T , CM000668.1:g.49426697G>T GRCh37
NC_000006.10:g.49534656G>T NCBI36
NG_007100.1:g.9156C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385+98C>A MANE Select ENSP00000274813.3:n.385+98C>A
ENST00000274813.3:c.385+98C>A ENSP00000274813.3:n.385+98C>A
NM_000255.3:c.385+98C>A NP_000246.2:n.385+98C>A
XM_005249143.2:c.385+98C>A XP_005249200.1:n.385+98C>A
XM_005249143.3:c.385+98C>A XP_005249200.1:n.385+98C>A
NM_000255.4:c.385+98C>A MANE Select NP_000246.2:n.385+98C>A
Search 100 bp 5'
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