Canonical Allele Identifier: CA013575

Gene: MYL3

Linked Data

• ClinVar Variation Id: 43121
• ClinVar RCV Id: RCV000157371 ; RCV000158937 ; RCV000238674 ; RCV000618276 ; RCV000538349 ; RCV000755682 ; RCV003318341
• dbSNP Id: rs139794067
• ExAC: 3:46902303 G / T
• gnomAD v2: 3-46902303-G-T
• gnomAD v3: 3-46860813-G-T
• gnomAD v4: 3-46860813-G-T
• MyVariant Identifiers: chr3:g.46902303G>T (hg19) ; chr3:g.46860813G>T (hg38)
• PubMed: PMID:11174330 ; PMID:20641121 ; PMID:21239446 ; PMID:22131351 ; PMID:23426552 ; PMID:23748425 ; PMID:24111713 ; PMID:27483260 ; PMID:27574918 ; PMID:28971120

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.170C>A	ENSP00000393455.2:p.Ala57Asp
ENST00000292327.6:c.170C>A MANE Select	ENSP00000292327.4:p.Ala57Asp
ENST00000653454.1:c.170C>A	ENSP00000499624.1:p.Ala57Asp
ENST00000654597.1:c.170C>A	ENSP00000499406.1:p.Ala57Asp
ENST00000655244.1:n.392C>A
ENST00000662933.1:c.170C>A	ENSP00000499577.1:p.Ala57Asp
ENST00000664891.1:n.128C>A
ENST00000292327.4:c.170C>A	ENSP00000292327.4:p.Ala57Asp
ENST00000395869.5:c.170C>A	ENSP00000379210.1:p.Ala57Asp
NM_000258.2:c.170C>A , LRG_395t1:c.170C>A	NP_000249.1:p.Ala57Asp
NM_000258.3:c.170C>A MANE Select	NP_000249.1:p.Ala57Asp