Canonical Allele Identifier: CA352498267
Gene: MYL3 HGNC NCBI

Linked Data

ClinVar Variation Id: 629011
ClinVar RCV Id: RCV000773697
dbSNP Id: rs1559520411

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46860754C>T , CM000665.2:g.46860754C>T GRCh38
NC_000003.11:g.46902244C>T , CM000665.1:g.46902244C>T GRCh37
NC_000003.10:g.46877248C>T NCBI36
NG_007555.2:g.26416G>A , LRG_395:g.26416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000431168.2:c.229G>A ENSP00000393455.2:p.Gly77Arg
ENST00000292327.6:c.229G>A MANE Select ENSP00000292327.4:p.Gly77Arg
ENST00000653454.1:c.229G>A ENSP00000499624.1:p.Gly77Arg
ENST00000654597.1:c.229G>A ENSP00000499406.1:p.Gly77Arg
ENST00000655244.1:n.451G>A
ENST00000662933.1:c.229G>A ENSP00000499577.1:p.Gly77Arg
ENST00000664891.1:n.187G>A
ENST00000292327.4:c.229G>A ENSP00000292327.4:p.Gly77Arg
ENST00000395869.5:c.229G>A ENSP00000379210.1:p.Gly77Arg
NM_000258.2:c.229G>A , LRG_395t1:c.229G>A NP_000249.1:p.Gly77Arg
NM_000258.3:c.229G>A MANE Select NP_000249.1:p.Gly77Arg