Canonical Allele Identifier: CA043987
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1906653
ClinVar RCV Id: RCV002587068
dbSNP Id: rs765196173
ExAC: 3:46901053 C / T
gnomAD v2: 3-46901053-C-T
gnomAD v3: 3-46859563-C-T
gnomAD v4: 3-46859563-C-T
MyVariant Identifiers: chr3:g.46901053C>T (hg19) chr3:g.46859563C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46859563C>T , CM000665.2:g.46859563C>T GRCh38
NC_000003.11:g.46901053C>T , CM000665.1:g.46901053C>T GRCh37
NC_000003.10:g.46876057C>T NCBI36
NG_007555.2:g.27607G>A , LRG_395:g.27607G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.393G>A ENSP00000393455.2:p.Glu131=
ENST00000292327.6:c.393G>A MANE Select ENSP00000292327.4:p.Glu131=
ENST00000653454.1:c.393G>A ENSP00000499624.1:p.Glu131=
ENST00000654597.1:c.393G>A ENSP00000499406.1:p.Glu131=
ENST00000655244.1:n.615G>A
ENST00000662933.1:c.393G>A ENSP00000499577.1:p.Glu131=
ENST00000664891.1:n.351G>A
ENST00000292327.4:c.393G>A ENSP00000292327.4:p.Glu131=
ENST00000395869.5:c.393G>A ENSP00000379210.1:p.Glu131=
NM_000258.2:c.393G>A , LRG_395t1:c.393G>A NP_000249.1:p.Glu131=
NM_000258.3:c.393G>A MANE Select NP_000249.1:p.Glu131=
Search 100 bp 5'
Search 100 bp 3'