Canonical Allele Identifier: CA013589
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31780
ClinVar RCV Id: RCV000024471 RCV000229595 RCV000243485 RCV000709747 RCV000722117 RCV001184759
dbSNP Id: rs139794067
ExAC: 3:46902303 G / C
gnomAD v2: 3-46902303-G-C
gnomAD v3: 3-46860813-G-C
gnomAD v4: 3-46860813-G-C
MyVariant Identifiers: chr3:g.46902303G>C (hg19) chr3:g.46860813G>C (hg38)
PubMed: PMID:11174330 PMID:17142342 PMID:20641121 PMID:21885653 PMID:22131351 PMID:23748425 PMID:27153395 PMID:27532257 PMID:27831900 PMID:28193612
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46860813G>C , CM000665.2:g.46860813G>C GRCh38
NC_000003.11:g.46902303G>C , CM000665.1:g.46902303G>C GRCh37
NC_000003.10:g.46877307G>C NCBI36
NG_007555.2:g.26357C>G , LRG_395:g.26357C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000431168.2:c.170C>G ENSP00000393455.2:p.Ala57Gly
ENST00000292327.6:c.170C>G MANE Select ENSP00000292327.4:p.Ala57Gly
ENST00000653454.1:c.170C>G ENSP00000499624.1:p.Ala57Gly
ENST00000654597.1:c.170C>G ENSP00000499406.1:p.Ala57Gly
ENST00000655244.1:n.392C>G
ENST00000662933.1:c.170C>G ENSP00000499577.1:p.Ala57Gly
ENST00000664891.1:n.128C>G
ENST00000292327.4:c.170C>G ENSP00000292327.4:p.Ala57Gly
ENST00000395869.5:c.170C>G ENSP00000379210.1:p.Ala57Gly
NM_000258.2:c.170C>G , LRG_395t1:c.170C>G NP_000249.1:p.Ala57Gly
NM_000258.3:c.170C>G MANE Select NP_000249.1:p.Ala57Gly
Search 100 bp 5'
Search 100 bp 3'