Canonical Allele Identifier: CA352496384

Gene: MYL3

Linked Data

• ClinVar Variation Id: 927180
• ClinVar RCV Id: RCV001190297 ; RCV002348635 ; RCV004010423
• dbSNP Id: rs1278498849
• gnomAD v4: 3-46859586-T-A
• MyVariant Identifiers: chr3:g.46901076T>A (hg19) ; chr3:g.46859586T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859586T>A , CM000665.2:g.46859586T>A	GRCh38
NC_000003.11:g.46901076T>A , CM000665.1:g.46901076T>A	GRCh37
NC_000003.10:g.46876080T>A	NCBI36
NG_007555.2:g.27584A>T , LRG_395:g.27584A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.370A>T	ENSP00000393455.2:p.Asn124Tyr
ENST00000292327.6:c.370A>T MANE Select	ENSP00000292327.4:p.Asn124Tyr
ENST00000653454.1:c.370A>T	ENSP00000499624.1:p.Asn124Tyr
ENST00000654597.1:c.370A>T	ENSP00000499406.1:p.Asn124Tyr
ENST00000655244.1:n.592A>T
ENST00000662933.1:c.370A>T	ENSP00000499577.1:p.Asn124Tyr
ENST00000664891.1:n.328A>T
ENST00000292327.4:c.370A>T	ENSP00000292327.4:p.Asn124Tyr
ENST00000395869.5:c.370A>T	ENSP00000379210.1:p.Asn124Tyr
NM_000258.2:c.370A>T , LRG_395t1:c.370A>T	NP_000249.1:p.Asn124Tyr
NM_000258.3:c.370A>T MANE Select	NP_000249.1:p.Asn124Tyr