Canonical Allele Identifier: CA013784
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 14061
ClinVar RCV Id: RCV000015105 RCV000158948 RCV000168418
dbSNP Id: rs104893748
MyVariant Identifiers: chr3:g.46901001T>C (hg19) chr3:g.46859511T>C (hg38)
PubMed: PMID:6211078 PMID:8673105 PMID:16267253
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46859511T>C , CM000665.2:g.46859511T>C GRCh38
NC_000003.11:g.46901001T>C , CM000665.1:g.46901001T>C GRCh37
NC_000003.10:g.46876005T>C NCBI36
NG_007555.2:g.27659A>G , LRG_395:g.27659A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000431168.2:c.445A>G ENSP00000393455.2:p.Met149Val
ENST00000292327.6:c.445A>G MANE Select ENSP00000292327.4:p.Met149Val
ENST00000653454.1:c.445A>G ENSP00000499624.1:p.Met149Val
ENST00000654597.1:c.445A>G ENSP00000499406.1:p.Met149Val
ENST00000655244.1:n.667A>G
ENST00000662933.1:c.445A>G ENSP00000499577.1:p.Met149Val
ENST00000664891.1:n.403A>G
ENST00000292327.4:c.445A>G ENSP00000292327.4:p.Met149Val
ENST00000395869.5:c.445A>G ENSP00000379210.1:p.Met149Val
NM_000258.2:c.445A>G , LRG_395t1:c.445A>G NP_000249.1:p.Met149Val
NM_000258.3:c.445A>G MANE Select NP_000249.1:p.Met149Val
Search 100 bp 5'
Search 100 bp 3'