Canonical Allele Identifier: CA2679047217
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49458964-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458964T>G , CM000668.2:g.49458964T>G GRCh38
NC_000006.11:g.49426677T>G , CM000668.1:g.49426677T>G GRCh37
NC_000006.10:g.49534636T>G NCBI36
NG_007100.1:g.9176A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+118A>C MANE Select ENSP00000274813.3:n.385+118A>C
ENST00000274813.3:c.385+118A>C ENSP00000274813.3:n.385+118A>C
NM_000255.3:c.385+118A>C NP_000246.2:n.385+118A>C
XM_005249143.2:c.385+118A>C XP_005249200.1:n.385+118A>C
XM_005249143.3:c.385+118A>C XP_005249200.1:n.385+118A>C
NM_000255.4:c.385+118A>C MANE Select NP_000246.2:n.385+118A>C
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