Canonical Allele Identifier: CA013615

Gene: MYL3

Linked Data

• ClinVar Variation Id: 177931
• ClinVar RCV Id: RCV000154591 ; RCV000617865 ; RCV000777995 ; RCV001358941 ; RCV001699044
• dbSNP Id: rs565312070
• ExAC: 3:46902286 G / A
• gnomAD v2: 3-46902286-G-A
• gnomAD v3: 3-46860796-G-A
• gnomAD v4: 3-46860796-G-A
• MyVariant Identifiers: chr3:g.46902286G>A (hg19) ; chr3:g.46860796G>A (hg38)
• PubMed: PMID:25086479

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860796G>A , CM000665.2:g.46860796G>A	GRCh38
NC_000003.11:g.46902286G>A , CM000665.1:g.46902286G>A	GRCh37
NC_000003.10:g.46877290G>A	NCBI36
NG_007555.2:g.26374C>T , LRG_395:g.26374C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.187C>T	ENSP00000393455.2:p.Arg63Cys
ENST00000292327.6:c.187C>T MANE Select	ENSP00000292327.4:p.Arg63Cys
ENST00000653454.1:c.187C>T	ENSP00000499624.1:p.Arg63Cys
ENST00000654597.1:c.187C>T	ENSP00000499406.1:p.Arg63Cys
ENST00000655244.1:n.409C>T
ENST00000662933.1:c.187C>T	ENSP00000499577.1:p.Arg63Cys
ENST00000664891.1:n.145C>T
ENST00000292327.4:c.187C>T	ENSP00000292327.4:p.Arg63Cys
ENST00000395869.5:c.187C>T	ENSP00000379210.1:p.Arg63Cys
NM_000258.2:c.187C>T , LRG_395t1:c.187C>T	NP_000249.1:p.Arg63Cys
NM_000258.3:c.187C>T MANE Select	NP_000249.1:p.Arg63Cys