Canonical Allele Identifier: CA312777
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 203854
ClinVar RCV Id: RCV000186054 RCV000203406 RCV000585983 RCV001271719 RCV001814093
dbSNP Id: rs760782399
ExAC: 6:49425585 G / T
gnomAD v2: 6-49425585-G-T
gnomAD v3: 6-49457872-G-T
gnomAD v4: 6-49457872-G-T
MyVariant Identifiers: chr6:g.49425585G>T (hg19) chr6:g.49457872G>T (hg38)
PubMed: PMID:20301409
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457872G>T , CM000668.2:g.49457872G>T GRCh38
NC_000006.11:g.49425585G>T , CM000668.1:g.49425585G>T GRCh37
NC_000006.10:g.49533544G>T NCBI36
NG_007100.1:g.10268C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.572C>A MANE Select ENSP00000274813.3:p.Ala191Glu
ENST00000274813.3:c.572C>A ENSP00000274813.3:p.Ala191Glu
NM_000255.3:c.572C>A NP_000246.2:p.Ala191Glu
XM_005249143.2:c.572C>A XP_005249200.1:p.Ala191Glu
XM_005249143.3:c.572C>A XP_005249200.1:p.Ala191Glu
NM_000255.4:c.572C>A MANE Select NP_000246.2:p.Ala191Glu
Search 100 bp 5'
Search 100 bp 3'