Canonical Allele Identifier: CA3846950
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs751206990
ExAC: 6:49419372 C / T
gnomAD v2: 6-49419372-C-T
gnomAD v4: 6-49451659-C-T
MyVariant Identifiers: chr6:g.49419372C>T (hg19) chr6:g.49451659C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451659C>T , CM000668.2:g.49451659C>T GRCh38
NC_000006.11:g.49419372C>T , CM000668.1:g.49419372C>T GRCh37
NC_000006.10:g.49527331C>T NCBI36
NG_007100.1:g.16481G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1139G>A MANE Select ENSP00000274813.3:p.Gly380Glu
ENST00000274813.3:c.1139G>A ENSP00000274813.3:p.Gly380Glu
NM_000255.3:c.1139G>A NP_000246.2:p.Gly380Glu
XM_005249143.2:c.1139G>A XP_005249200.1:p.Gly380Glu
XM_005249143.3:c.1139G>A XP_005249200.1:p.Gly380Glu
NM_000255.4:c.1139G>A MANE Select NP_000246.2:p.Gly380Glu
Search 100 bp 5'
Search 100 bp 3'