Canonical Allele Identifier: CA3847068
Community Standard Title: NM_000255.4(MMUT):c.692dup (p.Tyr231Ter)
Gene: MMUT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457752dup , CM000668.2:g.49457752dup GRCh38
NC_000006.11:g.49425465dup , CM000668.1:g.49425465dup GRCh37
NC_000006.10:g.49533424dup NCBI36
NG_007100.1:g.10388dup

Transcript Alleles

HGVS Amino-acid Change
NM_000255.4:c.692dup MANE Select NP_000246.2:p.Tyr231Ter
ENST00000274813.4:c.692dup MANE Select ENSP00000274813.3:p.Tyr231Ter
NM_000255.3:c.692dup NP_000246.2:p.Tyr231Ter
ENST00000274813.3:c.692dup ENSP00000274813.3:p.Tyr231Ter
XM_005249143.2:c.692dup XP_005249200.1:p.Tyr231Ter
XM_005249143.3:c.692dup XP_005249200.1:p.Tyr231Ter
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