Canonical Allele Identifier: CA013800

Gene: MYL3

Linked Data

• ClinVar Variation Id: 43123
• ClinVar RCV Id: RCV002326733
• dbSNP Id: rs202141423
• ExAC: 3:46901000 A / G
• gnomAD v3: 3-46859510-A-G
• gnomAD v4: 3-46859510-A-G
• MyVariant Identifiers: chr3:g.46901000A>G (hg19) ; chr3:g.46859510A>G (hg38)
• PubMed: PMID:8673105 ; PMID:16267253 ; PMID:23283745

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46859510A>G , CM000665.2:g.46859510A>G	GRCh38
NC_000003.11:g.46901000A>G , CM000665.1:g.46901000A>G	GRCh37
NC_000003.10:g.46876004A>G	NCBI36
NG_007555.2:g.27660T>C , LRG_395:g.27660T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000431168.2:c.446T>C	ENSP00000393455.2:p.Met149Thr
ENST00000292327.6:c.446T>C MANE Select	ENSP00000292327.4:p.Met149Thr
ENST00000653454.1:c.446T>C	ENSP00000499624.1:p.Met149Thr
ENST00000654597.1:c.446T>C	ENSP00000499406.1:p.Met149Thr
ENST00000655244.1:n.668T>C
ENST00000662933.1:c.446T>C	ENSP00000499577.1:p.Met149Thr
ENST00000664891.1:n.404T>C
ENST00000292327.4:c.446T>C	ENSP00000292327.4:p.Met149Thr
ENST00000395869.5:c.446T>C	ENSP00000379210.1:p.Met149Thr
NM_000258.2:c.446T>C , LRG_395t1:c.446T>C	NP_000249.1:p.Met149Thr
NM_000258.3:c.446T>C MANE Select	NP_000249.1:p.Met149Thr