Canonical Allele Identifier: CA73778083

Gene: MYL3

Linked Data

• ClinVar Variation Id: 571443
• ClinVar RCV Id: RCV000692588 ; RCV002334301
• dbSNP Id: rs1005891266
• gnomAD v2: 3-46900960-C-T
• gnomAD v3: 3-46859470-C-T
• gnomAD v4: 3-46859470-C-T
• MyVariant Identifiers: chr3:g.46900960C>T (hg19) ; chr3:g.46859470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859470C>T , CM000665.2:g.46859470C>T	GRCh38
NC_000003.11:g.46900960C>T , CM000665.1:g.46900960C>T	GRCh37
NC_000003.10:g.46875964C>T	NCBI36
NG_007555.2:g.27700G>A , LRG_395:g.27700G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.481+5G>A	ENSP00000393455.2:n.481+5G>A
ENST00000292327.6:c.481+5G>A MANE Select	ENSP00000292327.4:n.481+5G>A
ENST00000653454.1:c.481+5G>A	ENSP00000499624.1:n.481+5G>A
ENST00000654597.1:c.481+5G>A	ENSP00000499406.1:n.481+5G>A
ENST00000655244.1:n.703+5G>A
ENST00000662933.1:c.481+5G>A	ENSP00000499577.1:n.481+5G>A
ENST00000664891.1:n.439+5G>A
ENST00000292327.4:c.481+5G>A	ENSP00000292327.4:n.481+5G>A
ENST00000395869.5:c.481+5G>A	ENSP00000379210.1:n.481+5G>A
NM_000258.2:c.481+5G>A , LRG_395t1:c.481+5G>A	NP_000249.1:n.481+5G>A
NM_000258.3:c.481+5G>A MANE Select	NP_000249.1:n.481+5G>A