Canonical Allele Identifier: CA3847085
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs748901340
ExAC: 6:49425538 C / G
gnomAD v2: 6-49425538-C-G
gnomAD v3: 6-49457825-C-G
gnomAD v4: 6-49457825-C-G
MyVariant Identifiers: chr6:g.49425538C>G (hg19) chr6:g.49457825C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457825C>G , CM000668.2:g.49457825C>G GRCh38
NC_000006.11:g.49425538C>G , CM000668.1:g.49425538C>G GRCh37
NC_000006.10:g.49533497C>G NCBI36
NG_007100.1:g.10315G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.619G>C MANE Select ENSP00000274813.3:p.Gly207Arg
ENST00000274813.3:c.619G>C ENSP00000274813.3:p.Gly207Arg
NM_000255.3:c.619G>C NP_000246.2:p.Gly207Arg
XM_005249143.2:c.619G>C XP_005249200.1:p.Gly207Arg
XM_005249143.3:c.619G>C XP_005249200.1:p.Gly207Arg
NM_000255.4:c.619G>C MANE Select NP_000246.2:p.Gly207Arg
Search 100 bp 5'
Search 100 bp 3'