Canonical Allele Identifier: CA450399542
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767767152
gnomAD v3: 6-49459083-C-T
gnomAD v4: 6-49459083-C-T
MyVariant Identifiers: chr6:g.49426796C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459083C>T , CM000668.2:g.49459083C>T GRCh38
NC_000006.11:g.49426796C>T , CM000668.1:g.49426796C>T GRCh37
NC_000006.10:g.49534755C>T NCBI36
NG_007100.1:g.9057G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.384G>A MANE Select ENSP00000274813.3:p.Lys128=
ENST00000274813.3:c.384G>A ENSP00000274813.3:p.Lys128=
NM_000255.3:c.384G>A NP_000246.2:p.Lys128=
XM_005249143.2:c.384G>A XP_005249200.1:p.Lys128=
XM_005249143.3:c.384G>A XP_005249200.1:p.Lys128=
NM_000255.4:c.384G>A MANE Select NP_000246.2:p.Lys128=
Search 100 bp 5'
Search 100 bp 3'