Canonical Allele Identifier: CA3846857
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 357259
ClinVar RCV Id: RCV000601351 RCV001450068 RCV001833472 RCV000977438
dbSNP Id: rs772936850
ExAC: 6:49415428 A / G
gnomAD v2: 6-49415428-A-G
gnomAD v4: 6-49447715-A-G
MyVariant Identifiers: chr6:g.49415428A>G (hg19) chr6:g.49447715A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447715A>G , CM000668.2:g.49447715A>G GRCh38
NC_000006.11:g.49415428A>G , CM000668.1:g.49415428A>G GRCh37
NC_000006.10:g.49523387A>G NCBI36
NG_007100.1:g.20425T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1515T>C MANE Select ENSP00000274813.3:p.Ile505=
ENST00000274813.3:c.1515T>C ENSP00000274813.3:p.Ile505=
NM_000255.3:c.1515T>C NP_000246.2:p.Ile505=
XM_005249143.2:c.1515T>C XP_005249200.1:p.Ile505=
XM_005249143.3:c.1515T>C XP_005249200.1:p.Ile505=
NM_000255.4:c.1515T>C MANE Select NP_000246.2:p.Ile505=
Search 100 bp 5'
Search 100 bp 3'