Canonical Allele Identifier: CA825477395
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1318745295
MyVariant Identifiers: chr6:g.49419310del (hg19) chr6:g.49451597del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451600del , CM000668.2:g.49451600del GRCh38
NC_000006.11:g.49419313del , CM000668.1:g.49419313del GRCh37
NC_000006.10:g.49527272del NCBI36
NG_007100.1:g.16543del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1201del MANE Select ENSP00000274813.3:p.Ser401ValfsTer30
ENST00000274813.3:c.1201del ENSP00000274813.3:p.Ser401ValfsTer30
NM_000255.3:c.1201del NP_000246.2:p.Ser401ValfsTer30
XM_005249143.2:c.1201del XP_005249200.1:p.Ser401ValfsTer30
XM_005249143.3:c.1201del XP_005249200.1:p.Ser401ValfsTer30
NM_000255.4:c.1201del MANE Select NP_000246.2:p.Ser401ValfsTer30
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Search 100 bp 3'