Canonical Allele Identifier: CA3847055
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs752875861
ExAC: 6:49425398 G / A
gnomAD v2: 6-49425398-G-A
gnomAD v3: 6-49457685-G-A
gnomAD v4: 6-49457685-G-A
MyVariant Identifiers: chr6:g.49425398G>A (hg19) chr6:g.49457685G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457685G>A , CM000668.2:g.49457685G>A GRCh38
NC_000006.11:g.49425398G>A , CM000668.1:g.49425398G>A GRCh37
NC_000006.10:g.49533357G>A NCBI36
NG_007100.1:g.10455C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.753+6C>T MANE Select ENSP00000274813.3:n.753+6C>T
ENST00000274813.3:c.753+6C>T ENSP00000274813.3:n.753+6C>T
NM_000255.3:c.753+6C>T NP_000246.2:n.753+6C>T
XM_005249143.2:c.753+6C>T XP_005249200.1:n.753+6C>T
XM_005249143.3:c.753+6C>T XP_005249200.1:n.753+6C>T
NM_000255.4:c.753+6C>T MANE Select NP_000246.2:n.753+6C>T
Search 100 bp 5'
Search 100 bp 3'