Canonical Allele Identifier: CA825473358
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs923956494
gnomAD v3: 6-49447556-T-A
gnomAD v4: 6-49447556-T-A
MyVariant Identifiers: chr6:g.49415269T>A (hg19) chr6:g.49447556T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447556T>A , CM000668.2:g.49447556T>A GRCh38
NC_000006.11:g.49415269T>A , CM000668.1:g.49415269T>A GRCh37
NC_000006.10:g.49523228T>A NCBI36
NG_007100.1:g.20584A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1560+114A>T MANE Select ENSP00000274813.3:n.1560+114A>T
ENST00000274813.3:c.1560+114A>T ENSP00000274813.3:n.1560+114A>T
NM_000255.3:c.1560+114A>T NP_000246.2:n.1560+114A>T
XM_005249143.2:c.1560+114A>T XP_005249200.1:n.1560+114A>T
XM_005249143.3:c.1560+114A>T XP_005249200.1:n.1560+114A>T
NM_000255.4:c.1560+114A>T MANE Select NP_000246.2:n.1560+114A>T
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