Canonical Allele Identifier: CA1362297031

Gene: MYL3

Linked Data

• dbSNP Id: rs1701965730
• gnomAD v4: 3-46859402-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859408dup , CM000665.2:g.46859408dup	GRCh38
NC_000003.11:g.46900898dup , CM000665.1:g.46900898dup	GRCh37
NC_000003.10:g.46875902dup	NCBI36
NG_007555.2:g.27767dup , LRG_395:g.27767dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.481+72dup	ENSP00000393455.2:n.481+72dup
ENST00000292327.6:c.481+72dup MANE Select	ENSP00000292327.4:n.481+72dup
ENST00000653454.1:c.481+72dup	ENSP00000499624.1:n.481+72dup
ENST00000654597.1:c.481+72dup	ENSP00000499406.1:n.481+72dup
ENST00000655244.1:n.703+72dup
ENST00000662933.1:c.481+72dup	ENSP00000499577.1:n.481+72dup
ENST00000664891.1:n.439+72dup
ENST00000292327.4:c.481+72dup	ENSP00000292327.4:n.481+72dup
ENST00000395869.5:c.481+72dup	ENSP00000379210.1:n.481+72dup
NM_000258.2:c.481+72dup , LRG_395t1:c.481+72dup	NP_000249.1:n.481+72dup
NM_000258.3:c.481+72dup MANE Select	NP_000249.1:n.481+72dup