Canonical Allele Identifier: CA3847149
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1645292
ClinVar RCV Id: RCV002143830
dbSNP Id: rs761026696
ExAC: 6:49426922 T / C
gnomAD v2: 6-49426922-T-C
gnomAD v4: 6-49459209-T-C
MyVariant Identifiers: chr6:g.49426922T>C (hg19) chr6:g.49459209T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459209T>C , CM000668.2:g.49459209T>C GRCh38
NC_000006.11:g.49426922T>C , CM000668.1:g.49426922T>C GRCh37
NC_000006.10:g.49534881T>C NCBI36
NG_007100.1:g.8931A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.258A>G MANE Select ENSP00000274813.3:p.Pro86=
ENST00000274813.3:c.258A>G ENSP00000274813.3:p.Pro86=
NM_000255.3:c.258A>G NP_000246.2:p.Pro86=
XM_005249143.2:c.258A>G XP_005249200.1:p.Pro86=
XM_005249143.3:c.258A>G XP_005249200.1:p.Pro86=
NM_000255.4:c.258A>G MANE Select NP_000246.2:p.Pro86=
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