Canonical Allele Identifier: CA235526
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 100711
ClinVar RCV Id: RCV000162235
dbSNP Id: rs483352785
MyVariant Identifiers: chr6:g.49426765T>G (hg19) chr6:g.49459052T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459052T>G , CM000668.2:g.49459052T>G GRCh38
NC_000006.11:g.49426765T>G , CM000668.1:g.49426765T>G GRCh37
NC_000006.10:g.49534724T>G NCBI36
NG_007100.1:g.9088A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.385+30A>C MANE Select ENSP00000274813.3:n.385+30A>C
ENST00000274813.3:c.385+30A>C ENSP00000274813.3:n.385+30A>C
NM_000255.3:c.385+30A>C NP_000246.2:n.385+30A>C
XM_005249143.2:c.385+30A>C XP_005249200.1:n.385+30A>C
XM_005249143.3:c.385+30A>C XP_005249200.1:n.385+30A>C
NM_000255.4:c.385+30A>C MANE Select NP_000246.2:n.385+30A>C
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