Canonical Allele Identifier: CA450606478
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2853382
ClinVar RCV Id: RCV003696007
gnomAD v4: 6-49451592-A-G
MyVariant Identifiers: chr6:g.49419305A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451592A>G , CM000668.2:g.49451592A>G GRCh38
NC_000006.11:g.49419305A>G , CM000668.1:g.49419305A>G GRCh37
NC_000006.10:g.49527264A>G NCBI36
NG_007100.1:g.16548T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1206T>C MANE Select ENSP00000274813.3:p.Ala402=
ENST00000274813.3:c.1206T>C ENSP00000274813.3:p.Ala402=
NM_000255.3:c.1206T>C NP_000246.2:p.Ala402=
XM_005249143.2:c.1206T>C XP_005249200.1:p.Ala402=
XM_005249143.3:c.1206T>C XP_005249200.1:p.Ala402=
NM_000255.4:c.1206T>C MANE Select NP_000246.2:p.Ala402=
Search 100 bp 5'
Search 100 bp 3'