Canonical Allele Identifier: CA3847150
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 553773
ClinVar RCV Id: RCV000669290 RCV001376596 RCV003403555
dbSNP Id: rs769348060
ExAC: 6:49426923 G / A
gnomAD v2: 6-49426923-G-A
gnomAD v3: 6-49459210-G-A
gnomAD v4: 6-49459210-G-A
MyVariant Identifiers: chr6:g.49426923G>A (hg19) chr6:g.49459210G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459210G>A , CM000668.2:g.49459210G>A GRCh38
NC_000006.11:g.49426923G>A , CM000668.1:g.49426923G>A GRCh37
NC_000006.10:g.49534882G>A NCBI36
NG_007100.1:g.8930C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.257C>T MANE Select ENSP00000274813.3:p.Pro86Leu
ENST00000274813.3:c.257C>T ENSP00000274813.3:p.Pro86Leu
NM_000255.3:c.257C>T NP_000246.2:p.Pro86Leu
XM_005249143.2:c.257C>T XP_005249200.1:p.Pro86Leu
XM_005249143.3:c.257C>T XP_005249200.1:p.Pro86Leu
NM_000255.4:c.257C>T MANE Select NP_000246.2:p.Pro86Leu
Search 100 bp 5'
Search 100 bp 3'