Canonical Allele Identifier: CA364404082
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2916615
ClinVar RCV Id: RCV003740449
dbSNP Id: rs1561958979
gnomAD v3: 6-49457756-T-C
gnomAD v4: 6-49457756-T-C
MyVariant Identifiers: chr6:g.49425469T>C (hg19) chr6:g.49457756T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457756T>C , CM000668.2:g.49457756T>C GRCh38
NC_000006.11:g.49425469T>C , CM000668.1:g.49425469T>C GRCh37
NC_000006.10:g.49533428T>C NCBI36
NG_007100.1:g.10384A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.688A>G MANE Select ENSP00000274813.3:p.Thr230Ala
ENST00000274813.3:c.688A>G ENSP00000274813.3:p.Thr230Ala
NM_000255.3:c.688A>G NP_000246.2:p.Thr230Ala
XM_005249143.2:c.688A>G XP_005249200.1:p.Thr230Ala
XM_005249143.3:c.688A>G XP_005249200.1:p.Thr230Ala
NM_000255.4:c.688A>G MANE Select NP_000246.2:p.Thr230Ala
Search 100 bp 5'
Search 100 bp 3'