Canonical Allele Identifier: CA73779102

Gene: MYL3

Linked Data

• ClinVar Variation Id: 1289417
• ClinVar RCV Id: RCV001713979
• dbSNP Id: rs200593962
• gnomAD v2: 3-46902110-A-C
• gnomAD v3: 3-46860620-A-C
• gnomAD v4: 3-46860620-A-C
• MyVariant Identifiers: chr3:g.46902110A>C (hg19) ; chr3:g.46860620A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46860620A>C , CM000665.2:g.46860620A>C	GRCh38
NC_000003.11:g.46902110A>C , CM000665.1:g.46902110A>C	GRCh37
NC_000003.10:g.46877114A>C	NCBI36
NG_007555.2:g.26550T>G , LRG_395:g.26550T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.307+56T>G	ENSP00000393455.2:n.307+56T>G
ENST00000292327.6:c.307+56T>G MANE Select	ENSP00000292327.4:n.307+56T>G
ENST00000653454.1:c.307+56T>G	ENSP00000499624.1:n.307+56T>G
ENST00000654597.1:c.307+56T>G	ENSP00000499406.1:n.307+56T>G
ENST00000655244.1:n.529+56T>G
ENST00000662933.1:c.307+56T>G	ENSP00000499577.1:n.307+56T>G
ENST00000664891.1:n.265+56T>G
ENST00000292327.4:c.307+56T>G	ENSP00000292327.4:n.307+56T>G
ENST00000395869.5:c.307+56T>G	ENSP00000379210.1:n.307+56T>G
NM_000258.2:c.307+56T>G , LRG_395t1:c.307+56T>G	NP_000249.1:n.307+56T>G
NM_000258.3:c.307+56T>G MANE Select	NP_000249.1:n.307+56T>G