Canonical Allele Identifier: CA364405945
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767781874
gnomAD v3: 6-49459425-A-T
gnomAD v4: 6-49459425-A-T
MyVariant Identifiers: chr6:g.49427138A>T (hg19) chr6:g.49459425A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459425A>T , CM000668.2:g.49459425A>T GRCh38
NC_000006.11:g.49427138A>T , CM000668.1:g.49427138A>T GRCh37
NC_000006.10:g.49535097A>T NCBI36
NG_007100.1:g.8715T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.42T>A MANE Select ENSP00000274813.3:p.His14Gln
ENST00000274813.3:c.42T>A ENSP00000274813.3:p.His14Gln
NM_000255.3:c.42T>A NP_000246.2:p.His14Gln
XM_005249143.2:c.42T>A XP_005249200.1:p.His14Gln
XM_005249143.3:c.42T>A XP_005249200.1:p.His14Gln
NM_000255.4:c.42T>A MANE Select NP_000246.2:p.His14Gln
Search 100 bp 5'
Search 100 bp 3'