Canonical Allele Identifier: CA364583021
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49399538G>C (hg19) chr6:g.49431825G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431825G>C , CM000668.2:g.49431825G>C GRCh38
NC_000006.11:g.49399538G>C , CM000668.1:g.49399538G>C GRCh37
NC_000006.10:g.49507497G>C NCBI36
NG_007100.1:g.36315C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2156C>G MANE Select ENSP00000274813.3:p.Ser719Cys
ENST00000274813.3:c.2156C>G ENSP00000274813.3:p.Ser719Cys
NM_000255.3:c.2156C>G NP_000246.2:p.Ser719Cys
XM_005249143.2:c.2156C>G XP_005249200.1:p.Ser719Cys
XM_005249143.3:c.2156C>G XP_005249200.1:p.Ser719Cys
NM_000255.4:c.2156C>G MANE Select NP_000246.2:p.Ser719Cys
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