Canonical Allele Identifier: CA2679047222
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49458969-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458969A>T , CM000668.2:g.49458969A>T GRCh38
NC_000006.11:g.49426682A>T , CM000668.1:g.49426682A>T GRCh37
NC_000006.10:g.49534641A>T NCBI36
NG_007100.1:g.9171T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385+113T>A MANE Select ENSP00000274813.3:n.385+113T>A
ENST00000274813.3:c.385+113T>A ENSP00000274813.3:n.385+113T>A
NM_000255.3:c.385+113T>A NP_000246.2:n.385+113T>A
XM_005249143.2:c.385+113T>A XP_005249200.1:n.385+113T>A
XM_005249143.3:c.385+113T>A XP_005249200.1:n.385+113T>A
NM_000255.4:c.385+113T>A MANE Select NP_000246.2:n.385+113T>A
Search 100 bp 5'
Search 100 bp 3'