Canonical Allele Identifier: CA352496404

Gene: MYL3

Linked Data

• gnomAD v4: 3-46859588-T-C
• MyVariant Identifiers: chr3:g.46901078T>C (hg19) ; chr3:g.46859588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859588T>C , CM000665.2:g.46859588T>C	GRCh38
NC_000003.11:g.46901078T>C , CM000665.1:g.46901078T>C	GRCh37
NC_000003.10:g.46876082T>C	NCBI36
NG_007555.2:g.27582A>G , LRG_395:g.27582A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431168.2:c.368A>G	ENSP00000393455.2:p.Lys123Arg
ENST00000292327.6:c.368A>G MANE Select	ENSP00000292327.4:p.Lys123Arg
ENST00000653454.1:c.368A>G	ENSP00000499624.1:p.Lys123Arg
ENST00000654597.1:c.368A>G	ENSP00000499406.1:p.Lys123Arg
ENST00000655244.1:n.590A>G
ENST00000662933.1:c.368A>G	ENSP00000499577.1:p.Lys123Arg
ENST00000664891.1:n.326A>G
ENST00000292327.4:c.368A>G	ENSP00000292327.4:p.Lys123Arg
ENST00000395869.5:c.368A>G	ENSP00000379210.1:p.Lys123Arg
NM_000258.2:c.368A>G , LRG_395t1:c.368A>G	NP_000249.1:p.Lys123Arg
NM_000258.3:c.368A>G MANE Select	NP_000249.1:p.Lys123Arg