Canonical Allele Identifier: CA450608620
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49425641A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457928A>G , CM000668.2:g.49457928A>G GRCh38
NC_000006.11:g.49425641A>G , CM000668.1:g.49425641A>G GRCh37
NC_000006.10:g.49533600A>G NCBI36
NG_007100.1:g.10212T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.516T>C MANE Select ENSP00000274813.3:p.Ile172=
ENST00000274813.3:c.516T>C ENSP00000274813.3:p.Ile172=
NM_000255.3:c.516T>C NP_000246.2:p.Ile172=
XM_005249143.2:c.516T>C XP_005249200.1:p.Ile172=
XM_005249143.3:c.516T>C XP_005249200.1:p.Ile172=
NM_000255.4:c.516T>C MANE Select NP_000246.2:p.Ile172=
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