Canonical Allele Identifier: CA364404137
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49425478C>G (hg19) chr6:g.49457765C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457765C>G , CM000668.2:g.49457765C>G GRCh38
NC_000006.11:g.49425478C>G , CM000668.1:g.49425478C>G GRCh37
NC_000006.10:g.49533437C>G NCBI36
NG_007100.1:g.10375G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.679G>C MANE Select ENSP00000274813.3:p.Val227Leu
ENST00000274813.3:c.679G>C ENSP00000274813.3:p.Val227Leu
NM_000255.3:c.679G>C NP_000246.2:p.Val227Leu
XM_005249143.2:c.679G>C XP_005249200.1:p.Val227Leu
XM_005249143.3:c.679G>C XP_005249200.1:p.Val227Leu
NM_000255.4:c.679G>C MANE Select NP_000246.2:p.Val227Leu
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