Canonical Allele Identifier: CA364404418
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1073632
ClinVar RCV Id: RCV001386690 RCV002504646
dbSNP Id: rs1254433398
gnomAD v3: 6-49457863-G-A
gnomAD v4: 6-49457863-G-A
MyVariant Identifiers: chr6:g.49425576G>A (hg19) chr6:g.49457863G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457863G>A , CM000668.2:g.49457863G>A GRCh38
NC_000006.11:g.49425576G>A , CM000668.1:g.49425576G>A GRCh37
NC_000006.10:g.49533535G>A NCBI36
NG_007100.1:g.10277C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.581C>T MANE Select ENSP00000274813.3:p.Pro194Leu
ENST00000274813.3:c.581C>T ENSP00000274813.3:p.Pro194Leu
NM_000255.3:c.581C>T NP_000246.2:p.Pro194Leu
XM_005249143.2:c.581C>T XP_005249200.1:p.Pro194Leu
XM_005249143.3:c.581C>T XP_005249200.1:p.Pro194Leu
NM_000255.4:c.581C>T MANE Select NP_000246.2:p.Pro194Leu
Search 100 bp 5'
Search 100 bp 3'