Canonical Allele Identifier: CA352498237

Gene: MYL3

Linked Data

• ClinVar Variation Id: 2884678
• ClinVar RCV Id: RCV003748173 ; RCV004373972
• gnomAD v4: 3-46860750-T-A
• MyVariant Identifiers: chr3:g.46902240T>A (hg19) ; chr3:g.46860750T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860750T>A , CM000665.2:g.46860750T>A	GRCh38
NC_000003.11:g.46902240T>A , CM000665.1:g.46902240T>A	GRCh37
NC_000003.10:g.46877244T>A	NCBI36
NG_007555.2:g.26420A>T , LRG_395:g.26420A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.233A>T	ENSP00000393455.2:p.Asp78Val
ENST00000292327.6:c.233A>T MANE Select	ENSP00000292327.4:p.Asp78Val
ENST00000653454.1:c.233A>T	ENSP00000499624.1:p.Asp78Val
ENST00000654597.1:c.233A>T	ENSP00000499406.1:p.Asp78Val
ENST00000655244.1:n.455A>T
ENST00000662933.1:c.233A>T	ENSP00000499577.1:p.Asp78Val
ENST00000664891.1:n.191A>T
ENST00000292327.4:c.233A>T	ENSP00000292327.4:p.Asp78Val
ENST00000395869.5:c.233A>T	ENSP00000379210.1:p.Asp78Val
NM_000258.2:c.233A>T , LRG_395t1:c.233A>T	NP_000249.1:p.Asp78Val
NM_000258.3:c.233A>T MANE Select	NP_000249.1:p.Asp78Val