Canonical Allele Identifier: CA013672
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 161329
ClinVar RCV Id: RCV000148716 RCV000527113 RCV000777873 RCV002453474 RCV003155086 RCV002505134
dbSNP Id: rs150634297
ExAC: 3:46902238 C / T
gnomAD v2: 3-46902238-C-T
gnomAD v3: 3-46860748-C-T
gnomAD v4: 3-46860748-C-T
MyVariant Identifiers: chr3:g.46902238C>T (hg19) chr3:g.46860748C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46860748C>T , CM000665.2:g.46860748C>T GRCh38
NC_000003.11:g.46902238C>T , CM000665.1:g.46902238C>T GRCh37
NC_000003.10:g.46877242C>T NCBI36
NG_007555.2:g.26422G>A , LRG_395:g.26422G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.235G>A ENSP00000393455.2:p.Val79Ile
ENST00000292327.6:c.235G>A MANE Select ENSP00000292327.4:p.Val79Ile
ENST00000653454.1:c.235G>A ENSP00000499624.1:p.Val79Ile
ENST00000654597.1:c.235G>A ENSP00000499406.1:p.Val79Ile
ENST00000655244.1:n.457G>A
ENST00000662933.1:c.235G>A ENSP00000499577.1:p.Val79Ile
ENST00000664891.1:n.193G>A
ENST00000292327.4:c.235G>A ENSP00000292327.4:p.Val79Ile
ENST00000395869.5:c.235G>A ENSP00000379210.1:p.Val79Ile
NM_000258.2:c.235G>A , LRG_395t1:c.235G>A NP_000249.1:p.Val79Ile
NM_000258.3:c.235G>A MANE Select NP_000249.1:p.Val79Ile
Search 100 bp 5'
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