Canonical Allele Identifier: CA2596869766
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v3: 6-49447593-G-A
gnomAD v4: 6-49447593-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447593G>A , CM000668.2:g.49447593G>A GRCh38
NC_000006.11:g.49415306G>A , CM000668.1:g.49415306G>A GRCh37
NC_000006.10:g.49523265G>A NCBI36
NG_007100.1:g.20547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1560+77C>T MANE Select ENSP00000274813.3:n.1560+77C>T
ENST00000274813.3:c.1560+77C>T ENSP00000274813.3:n.1560+77C>T
NM_000255.3:c.1560+77C>T NP_000246.2:n.1560+77C>T
XM_005249143.2:c.1560+77C>T XP_005249200.1:n.1560+77C>T
XM_005249143.3:c.1560+77C>T XP_005249200.1:n.1560+77C>T
NM_000255.4:c.1560+77C>T MANE Select NP_000246.2:n.1560+77C>T
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