Canonical Allele Identifier: CA567155980
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2964415
ClinVar RCV Id: RCV003820517
dbSNP Id: rs1454591071
gnomAD v2: 6-49425783-A-C
gnomAD v4: 6-49458070-A-C
MyVariant Identifiers: chr6:g.49425783A>C (hg19) chr6:g.49458070A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49458070A>C , CM000668.2:g.49458070A>C GRCh38
NC_000006.11:g.49425783A>C , CM000668.1:g.49425783A>C GRCh37
NC_000006.10:g.49533742A>C NCBI36
NG_007100.1:g.10070T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.386-12T>G MANE Select ENSP00000274813.3:n.386-12T>G
ENST00000274813.3:c.386-12T>G ENSP00000274813.3:n.386-12T>G
NM_000255.3:c.386-12T>G NP_000246.2:n.386-12T>G
XM_005249143.2:c.386-12T>G XP_005249200.1:n.386-12T>G
XM_005249143.3:c.386-12T>G XP_005249200.1:n.386-12T>G
NM_000255.4:c.386-12T>G MANE Select NP_000246.2:n.386-12T>G
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