Canonical Allele Identifier: CA013615
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 177931
dbSNP Id: rs565312070
gnomAD v2: 3-46902286-G-A
gnomAD v3: 3-46860796-G-A
gnomAD v4: 3-46860796-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46860796G>A , CM000665.2:g.46860796G>A GRCh38
NC_000003.11:g.46902286G>A , CM000665.1:g.46902286G>A GRCh37
NC_000003.10:g.46877290G>A NCBI36
NG_007555.2:g.26374C>T , LRG_395:g.26374C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.187C>T ENSP00000393455.2:p.Arg63Cys
ENST00000292327.6:c.187C>T MANE Select ENSP00000292327.4:p.Arg63Cys
ENST00000653454.1:c.187C>T ENSP00000499624.1:p.Arg63Cys
ENST00000654597.1:c.187C>T ENSP00000499406.1:p.Arg63Cys
ENST00000655244.1:n.409C>T
ENST00000662933.1:c.187C>T ENSP00000499577.1:p.Arg63Cys
ENST00000664891.1:n.145C>T
ENST00000292327.4:c.187C>T ENSP00000292327.4:p.Arg63Cys
ENST00000395869.5:c.187C>T ENSP00000379210.1:p.Arg63Cys
NM_000258.2:c.187C>T , LRG_395t1:c.187C>T NP_000249.1:p.Arg63Cys
NM_000258.3:c.187C>T MANE Select NP_000249.1:p.Arg63Cys