Canonical Allele Identifier: CA364405131
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49426912G>T (hg19) chr6:g.49459199G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459199G>T , CM000668.2:g.49459199G>T GRCh38
NC_000006.11:g.49426912G>T , CM000668.1:g.49426912G>T GRCh37
NC_000006.10:g.49534871G>T NCBI36
NG_007100.1:g.8941C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.268C>A MANE Select ENSP00000274813.3:p.Pro90Thr
ENST00000274813.3:c.268C>A ENSP00000274813.3:p.Pro90Thr
NM_000255.3:c.268C>A NP_000246.2:p.Pro90Thr
XM_005249143.2:c.268C>A XP_005249200.1:p.Pro90Thr
XM_005249143.3:c.268C>A XP_005249200.1:p.Pro90Thr
NM_000255.4:c.268C>A MANE Select NP_000246.2:p.Pro90Thr
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